Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NRXN1	9378	broad.mit.edu	37	2	50779866	50779866	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:50779866A>T	uc021vhh.1	-	7	2539	c.1618T>A	c.(1618-1620)Ttc>Atc	p.F540I	NRXN1_uc002rxb.4_Missense_Mutation_p.F212I|NRXN1_uc021vhg.1_Missense_Mutation_p.F580I|NRXN1_uc021vhi.1_Missense_Mutation_p.F576I|NRXN1_uc021vhj.1_Missense_Mutation_p.F536I|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	540	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATAGCAAAGAAGTCCACCTTT	0.448000														73			27		0	0	0.007291	0	0
GLYATL2	219970	broad.mit.edu	37	11	58601914	58601914	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:58601914C>T	uc001nnd.4	-	5	1004	c.873G>A	c.(871-873)aaG>aaA	p.K291K	GLYATL2_uc009ymq.3_Silent_p.K291K	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	291						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AACAATATTTCTTGGGGGTGC	0.363000														15			26		0	0	0.007291	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904938	73904938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:73904938C>T	uc011dyh.2	+	14	3004	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F	KCNQ5_uc011dyi.2_Missense_Mutation_p.S877F|KCNQ5_uc010kat.3_Missense_Mutation_p.S858F|KCNQ5_uc003pgk.3_Missense_Mutation_p.S867F|KCNQ5_uc011dyj.2_Missense_Mutation_p.S757F|KCNQ5_uc011dyk.2_Missense_Mutation_p.S617F	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	867					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGAGGGAATCCAAATTGTTT	0.498000														10			22		0	0	0.012319	0	0
NR1H4	9971	broad.mit.edu	37	12	100934464	100934464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:100934464G>A	uc001tht.2	+	6	1004	c.976G>A	c.(976-978)Gac>Aac	p.D326N	NR1H4_uc001thq.2_Missense_Mutation_p.D316N|NR1H4_uc001thp.2_Missense_Mutation_p.D312N|NR1H4_uc001thr.2_Missense_Mutation_p.D316N|NR1H4_uc010svk.2_Missense_Mutation_p.D265N|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.D322N	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	326	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TCAGACTTTGGACCATGAAGA	0.383000														45			24		0	0	0.006320	0	0
PDS5B	23047	broad.mit.edu	37	13	33344523	33344523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:33344523C>T	uc010abf.3	+	31	4075	c.3889C>T	c.(3889-3891)Ctt>Ttt	p.L1297F	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	1297					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ACCAAAACCTCTTGGTGGAGG	0.423000														20			14		0	0	0.003163	0	0
POLQ	10721	broad.mit.edu	37	3	121207613	121207613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:121207613G>A	uc003eee.4	-	15	4294	c.4165C>T	c.(4165-4167)Cat>Tat	p.H1389Y	POLQ_uc003eed.3_Missense_Mutation_p.H561Y	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1389					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGGTCCAAATGATCTATCTTA	0.428000								DNA polymerases (catalytic subunits)						32			22		0	0	0.012319	0	0
OR2M4	26245	broad.mit.edu	37	1	248402326	248402327	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:248402326_248402327GG>AA	uc010pzh.2	+	0	96_97	c.96_97GG>AA	c.(94-99)ctgggc>ctAAgc	p.G33S		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTGGTCCTGGGCATCTTCTC	0.480000														178			50		0	0	0.004672	0	0
LOC442132	442132	broad.mit.edu	37	5	7303889	7303889	+	RNA	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:7303889C>T	uc003jdy.2	-	4		c.465G>A								Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA.																		GCACTGTTTCCAGTTCAGTTT	0.488000														12			11		0	0	0.008291	0	0
SCD5	79966	broad.mit.edu	37	4	83552506	83552506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:83552506C>T	uc003hna.2	-	4	1287	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	323					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCAGTCCTGGCCTTCCGGGCC	0.532000														14			18		0	0	0.010504	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296431	39296431	+	Silent	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:39296431A>G	uc010cxk.2	-	0	309	c.309T>C	c.(307-309)acT>acC	p.T103T		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	99	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GACGGCAGCAAGTGGGCTGGC	0.652000														43			4		0	0	0.001984	0	0
USP32	84669	broad.mit.edu	37	17	58300851	58300851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:58300851C>T	uc002iyo.1	-	13	1815	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	USP32_uc002iyn.1_Missense_Mutation_p.G180E	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	510	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CAAAATATTCCCATTGGCTCC	0.408000														101			29		0	0	0.009535	0	0
EFNB3	1949	broad.mit.edu	37	17	7611453	7611453	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7611453C>T	uc002gis.3	+	1	697	c.300C>T	c.(298-300)ctC>ctT	p.L100L		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	100					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CCCCAAACCTCCTTCTCACTT	0.592000														82			52		0	0	0.014410	0	0
ZNF251	90987	broad.mit.edu	37	8	145948623	145948623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:145948623C>T	uc003zdv.4	-	4	678	c.422G>A	c.(421-423)gGc>gAc	p.G141D		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TTTGAGTTTGCCCTCACGGCC	0.468000														38			18		0	0	0.008871	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43821132	43821132	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:43821132C>T	uc010skx.2	-	26	4086	c.4086G>A	c.(4084-4086)tgG>tgA	p.W1362*	ADAMTS20_uc001rno.1_Nonsense_Mutation_p.W480*	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1362	TSP type-1 10.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCCGTAGTTCCACTGTGGAC	0.423000														37			21		0	0	0.003954	0	0
ZNF132	7691	broad.mit.edu	37	19	58946315	58946315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:58946315C>T	uc002qst.4	-	2	897	c.496G>A	c.(496-498)Gga>Aga	p.G166R		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	166						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGCTTCCCTCCACTGTGCTCC	0.512000														64			42		0	0	0.013114	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10866671	10866672	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:10866671_10866672GG>AT	uc002ras.3	+	2	282_283	c.173_174GG>AT	c.(172-174)ggg>gAT	p.G58D	ATP6V1C2_uc002rat.3_Missense_Mutation_p.G58D	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	58					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.G58W(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GATGAGTTGGGGAAACTCGACA	0.450000														29			16		0	0	0.004672	0	0
OR51A7	119687	broad.mit.edu	37	11	4928900	4928900	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:4928900G>A	uc010qyq.2	+	0	301	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTGCTCAAGAATTCTTCAT	0.443000														51			46		0	0	0.014410	0	0
PLEC	5339	broad.mit.edu	37	8	144995304	144995304	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:144995304G>A	uc003zaf.1	-	31	9266	c.9096C>T	c.(9094-9096)gtC>gtT	p.V3032V	PLEC_uc003zab.1_Silent_p.V2895V|PLEC_uc003zac.1_Silent_p.V2899V|PLEC_uc003zad.2_Silent_p.V2895V|PLEC_uc003zae.1_Silent_p.V2863V|PLEC_uc003zag.1_Silent_p.V2873V|PLEC_uc003zah.2_Silent_p.V2881V|PLEC_uc003zaj.2_Silent_p.V2922V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3032	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGTCAGTGTAGACCAGCTCCC	0.627000														50			31		0	0	0.009535	0	0
NNMT	4837	broad.mit.edu	37	11	114168756	114168756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:114168756G>A	uc001por.1	+	3	502	c.238G>A	c.(238-240)Gag>Aag	p.E80K	NNMT_uc001pos.1_Missense_Mutation_p.E80K	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	80					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ATCCTTTAAGGAGATCGTCGT	0.537000														17			31		0	0	0.013726	0	0
WIPF2	147179	broad.mit.edu	37	17	38416912	38416912	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:38416912C>T	uc002hug.1	+	2	429	c.189C>T	c.(187-189)atC>atT	p.I63I	WIPF2_uc010cwv.1_Silent_p.I63I|WIPF2_uc002huh.1_Intron|WIPF2_uc010cww.1_5'UTR|WIPF2_uc002hui.1_Silent_p.I63I|WIPF2_uc010cwx.1_Silent_p.I63I|WIPF2_uc010cwy.1_Silent_p.I63I	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	63						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GTGCTCCCATCCTCGAGAGTG	0.517000										HNSCC(43;0.11)				19			19		0	0	0.012319	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555131	76555131	+	Silent	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:76555131T>C	uc002fex.1	+	14	2608	c.2469T>C	c.(2467-2469)ttT>ttC	p.F823F	CNTNAP4_uc002feu.1_Silent_p.F819F|CNTNAP4_uc002fev.1_Silent_p.F684F|CNTNAP4_uc010chb.1_Silent_p.F747F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	820	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATCTTTCTTTTTTAAGACAA	0.403000														101			88		0	0	0.014410	0	0
CAPN1	823	broad.mit.edu	37	11	64976830	64976830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:64976830C>T	uc009yqd.2	+	16	1963	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	CAPN1_uc001odf.2_Missense_Mutation_p.S589L|CAPN1_uc001odg.2_Missense_Mutation_p.S589L|CAPN1_uc010roa.2_Missense_Mutation_p.S330L	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	589	Domain IV.|EF-hand 2.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGCCTAGAGTCGTGCCGCAGC	0.547000														13			6		0	0	0.001984	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117787	117787	+	RNA	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrGL000205.1:117787G>A	uc002kgk.4	+	0		c.1165G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCTTTGCAGGATGGGATCG	0.567000														68			10		0	0	0.006214	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056668	120056668	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:120056668G>A	uc001ehv.1	+	3	667	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	174					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GGTGGAATCTGAAAAACGGCG	0.517000														40			31		0	0	0.008361	0	0
ZNF91	7644	broad.mit.edu	37	19	23544818	23544818	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:23544818G>A	uc002nre.3	-	3	1076	c.963C>T	c.(961-963)ccC>ccT	p.P321P	ZNF91_uc010xrj.2_Silent_p.P289P	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	321						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CACATTTGTAGGGTTTCTCTC	0.383000														39			36		0	0	0.005524	0	0
CFH	3075	broad.mit.edu	37	1	196695740	196695740	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:196695740C>T	uc001gtj.4	+	12	2254	c.2014C>T	c.(2014-2016)Caa>Taa	p.Q672*	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	672	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAATAAAATTCAATGTGTTGA	0.299000														61			13		0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179441663	179441663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179441663C>T	uc021vsy.1	-	272	61920	c.61695G>A	c.(61693-61695)atG>atA	p.M20565I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M14260I|TTN_uc021vta.1_Missense_Mutation_p.M14193I|TTN_uc021vtb.1_Missense_Mutation_p.M14068I|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21492	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTGTCTACCATTTTGACAG	0.393000														115			88		0	0	0.014410	0	0
MYPN	84665	broad.mit.edu	37	10	69926297	69926297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:69926297G>A	uc001jnm.4	+	10	2032	c.1847G>A	c.(1846-1848)gGt>gAt	p.G616D	MYPN_uc001jnl.1_Missense_Mutation_p.G616D|MYPN_uc001jnn.4_Missense_Mutation_p.G341D|MYPN_uc001jno.4_Missense_Mutation_p.G616D|MYPN_uc009xps.3_Missense_Mutation_p.G616D|MYPN_uc009xpt.3_Missense_Mutation_p.G616D|MYPN_uc010qit.2_Missense_Mutation_p.G322D|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	616						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCCGAGGCTGGTGTGGTGACC	0.567000														36			26		0	0	0.006320	0	0
TTF1	7270	broad.mit.edu	37	9	135275598	135275598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:135275598G>A	uc004cbl.3	-	2	1484	c.1415C>T	c.(1414-1416)tCc>tTc	p.S472F	TTF1_uc004cbm.3_5'UTR|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	472					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCTTATTTCGGAATCTTCAGC	0.413000														47			30		0	0	0.008361	0	0
NEO1	4756	broad.mit.edu	37	15	73468837	73468837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:73468837C>T	uc002avm.4	+	5	1301	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	NEO1_uc010ukx.2_Missense_Mutation_p.P370L|NEO1_uc010uky.2_Missense_Mutation_p.P370L|NEO1_uc002avn.4_Missense_Mutation_p.P370L|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	370	Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAACCAACTCCAACTGTGAAG	0.343000														36			30		0	0	0.007291	0	0
ATP2B1	490	broad.mit.edu	37	12	90018083	90018083	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:90018083C>T	uc001tbh.3	-	7	1402	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	ATP2B1_uc001tbg.3_Silent_p.E407E|ATP2B1_uc001tbf.3_Silent_p.E77E	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	407					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTGGTGTGCACTCAGCAAGCC	0.398000														31			15		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179629430	179629430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179629430G>A	uc021vsy.1	-	41	10037	c.9812C>T	c.(9811-9813)tCc>tTc	p.S3271F	TTN_uc021vsz.1_Missense_Mutation_p.S3225F|TTN_uc021vta.1_Missense_Mutation_p.S3225F|TTN_uc021vtb.1_Missense_Mutation_p.S3225F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.S3271F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3271	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTACCAGGAAATTTTGGG	0.527000														74			51		0	0	0.014410	0	0
RYR3	6263	broad.mit.edu	37	15	33962662	33962662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:33962662C>T	uc001zhi.3	+	37	5835	c.5765C>T	c.(5764-5766)tCc>tTc	p.S1922F	RYR3_uc010bar.3_Missense_Mutation_p.S1922F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1922	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		gaggaCACCTCCTGGACAGGA	0.522000														32			21		0	0	0.008871	0	0
ACSL5	51703	broad.mit.edu	37	10	114177604	114177604	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:114177604G>A	uc001kzu.3	+	14	1499	c.1387_splice	c.e14-1	p.D463_splice	ACSL5_uc001kzs.3_Splice_Site_p.D407_splice|ACSL5_uc001kzt.3_Splice_Site_p.D407_splice|ACSL5_uc009xxz.3_Splice_Site_p.D407_splice|ACSL5_uc010qrj.2_Splice_Site_p.D189_splice	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	407					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACTGAACAGGACAGCCTGGG	0.483000														69			41		0	0	0.010771	0	0
RB1	5925	broad.mit.edu	37	13	48953759	48953760	+	Nonsense_Mutation	DNP	CC	TT	TT	rs121913302		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:48953759_48953760CC>TT	uc001vcb.3	+	13	1528_1529	c.1362_1363CC>TT	c.(1360-1365)taccga>taTTga	p.R455*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	455	Domain A.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R455*(14)|p.?(8)|p.Y454*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTTGTATTACCGAGTAATGGA	0.356000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				6			5		0	0	0.004672	0	0
C15orf2	23742	broad.mit.edu	37	15	24924035	24924035	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:24924035G>A	uc001ywo.3	+	0	3495	c.3021G>A	c.(3019-3021)gtG>gtA	p.V1007V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1007					cell differentiation|multicellular organismal development|spermatogenesis			p.Q1006Q(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCCCACAAGTGATTATGGGAC	0.512000														22			9		0	0	0.006214	0	0
CLPTM1	1209	broad.mit.edu	37	19	45490615	45490616	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:45490615_45490616GT>AA	uc002pai.3	+	7	1026_1027	c.972_973GT>AA	c.(970-975)aagtcg>aaAAcg	p.S325T	CLPTM1_uc010ejv.1_Missense_Mutation_p.S223T|CLPTM1_uc010xxf.2_Missense_Mutation_p.S223T|CLPTM1_uc010xxg.2_Missense_Mutation_p.S311T	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	325					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGAGCACCAAGTCGCCCTGGAA	0.634000														124			75		0	0	0.004672	0	0
ZNF778	197320	broad.mit.edu	37	16	89294965	89294965	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:89294965T>A	uc021tms.1	+	6	2608	c.2269T>A	c.(2269-2271)Ttc>Atc	p.F757I	ZNF778_uc010vpg.2_Missense_Mutation_p.F492I|ZNF778_uc002fmv.3_Missense_Mutation_p.F729I|ZNF778_uc002fmw.2_Missense_Mutation_p.F687I	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TGAGAAACCTTTCTAATGTAA	0.408000														27			31		0	0	0.003271	0	0
MAST3	23031	broad.mit.edu	37	19	18248077	18248077	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:18248077C>T	uc002nhz.4	+	17	1914	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	638	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGCAGCACCCCTTTTTCCTGG	0.617000														41			25		0	0	0.003330	0	0
UGT1A1	54658	broad.mit.edu	37	2	234590615	234590615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:234590615C>T	uc002vut.3	+	0	32	c.32C>T	c.(31-33)cCc>cTc	p.P11L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.P11L	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	14					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGCCTCCTTCCCCTATATGTG	0.542000											OREG0003832	type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		76			49		0	0	0.014410	0	0
MYH3	4621	broad.mit.edu	37	17	10558265	10558265	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10558265G>A	uc002gmq.2	-	2	205	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	39	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.F39F(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGTCCACCACGAAGCAATACG	0.493000														105			80		0	0	0.014410	0	0
TACR3	6870	broad.mit.edu	37	4	104579504	104579504	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:104579504A>T	uc003hxe.1	-	1	746	c.605T>A	c.(604-606)aTt>aAt	p.I202N		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	202						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCCAATGACAATCTTGGTTGC	0.378000														20			29		0	0	0.007291	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200855	67200855	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:67200855C>T	uc001old.3	+	9	925	c.843C>T	c.(841-843)atC>atT	p.I281I	RPS6KB2_uc021qmi.1_Silent_p.I4I	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	281	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGGATAAGATCATCAGGGGCA	0.627000														69			50		0	0	0.014410	0	0
COL5A2	1290	broad.mit.edu	37	2	189931456	189931456	+	Splice_Site	SNP	G	A	A	rs145281966	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:189931456G>A	uc002uqk.3	-	22	1730	c.1455_splice	c.e22+1	p.P485_splice	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	485					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AAACCTTACTGGTTCCCCTTT	0.348000														57			35		0	0	0.004878	0	0
PDE6B	5158	broad.mit.edu	37	4	651211	651211	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:651211C>T	uc003gap.3	+	9	1382	c.1329C>T	c.(1327-1329)aaC>aaT	p.N443N	PDE6B_uc003gao.4_Silent_p.N443N|PDE6B_uc011buy.2_Silent_p.N164N|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	443					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGCTGGAGAACCGCAAGGACA	0.597000														28			14		0	0	0.002450	0	0
UNK	85451	broad.mit.edu	37	17	73812881	73812881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:73812881C>T	uc002jpm.3	+	8	1220	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	UNK_uc021udd.1_Missense_Mutation_p.S331F	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	331							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCAGCCTTCCTCAGCTGTG	0.662000														24			11		0	0	0.001855	0	0
RIF1	55183	broad.mit.edu	37	2	152319619	152319619	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:152319619C>T	uc002txm.3	+	29	3746	c.3585C>T	c.(3583-3585)ttC>ttT	p.F1195F	RIF1_uc002txn.3_Silent_p.F1195F|RIF1_uc002txl.3_Silent_p.F1195F|RIF1_uc002txo.3_Silent_p.F1195F|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1195					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAATTCTTTCGTTGTCAGCA	0.368000														39			22		0	0	0.014323	0	0
FNBP1	23048	broad.mit.edu	37	9	132662284	132662284	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:132662284G>A	uc004byw.1	-	14	1866	c.1647C>T	c.(1645-1647)ctC>ctT	p.L549L	FNBP1_uc011mbv.1_Silent_p.L539L|FNBP1_uc011mbw.1_Silent_p.L544L|FNBP1_uc004bza.2_Silent_p.L483L|FNBP1_uc004byz.1_Silent_p.L520L|FNBP1_uc011mbu.1_Silent_p.L177L|FNBP1_uc004byx.1_Silent_p.L465L|FNBP1_uc004byy.1_Silent_p.L455L	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	549	Interaction with DNM1 and DNM3.|Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTATGGCAGGGAGGGGCTCCT	0.493000			T	MLL	AML									65			46		0	0	0.014410	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619277	64619277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:64619277C>T	uc003dmg.3	-	13	2078	c.2046G>A	c.(2044-2046)atG>atA	p.M682I	ADAMTS9_uc011bfo.2_Missense_Mutation_p.M654I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.M511I|ADAMTS9_uc003dmk.1_Missense_Mutation_p.M682I	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	682	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACCGGTCCTTCATCAGAACTA	0.512000														252			186		0	0	0.014410	0	0
ZNF585A	199704	broad.mit.edu	37	19	37642536	37642536	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:37642536G>A	uc002ofo.1	-	4	2496	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	ZNF585A_uc002ofm.1_Silent_p.F700F|ZNF585A_uc002ofn.1_Silent_p.F700F	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTCTGAACGAAGCCTTTCC	0.488000														56			34		0	0	0.010771	0	0
AKAP13	11214	broad.mit.edu	37	15	86076862	86076862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:86076862G>A	uc002blv.1	+	3	399	c.229G>A	c.(229-231)Gag>Aag	p.E77K	AKAP13_uc002bls.3_Missense_Mutation_p.E77K|AKAP13_uc002blt.1_Missense_Mutation_p.E77K|AKAP13_uc002blu.1_Missense_Mutation_p.E77K	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	77					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCTTCCAAAGAGGGCCTTCC	0.458000														43			34		0	0	0.004289	0	0
PTGS1	5742	broad.mit.edu	37	9	125152476	125152476	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:125152476G>A	uc004bmg.1	+	10	1432	c.1297_splice	c.e10-1	p.I433_splice	PTGS1_uc011lys.1_Splice_Site_p.I371_splice|PTGS1_uc010mwb.1_Splice_Site_p.I287_splice|PTGS1_uc004bmf.1_Splice_Site_p.I396_splice|PTGS1_uc004bmh.1_Splice_Site_p.I324_splice|PTGS1_uc011lyt.1_Splice_Site_p.I324_splice	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	433					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	TCTCTCGGCAGATCGGTGGGG	0.602000														22			19		0	0	0.006122	0	0
RAI1	10743	broad.mit.edu	37	17	17698096	17698096	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:17698096C>T	uc002grm.3	+	2	2303	c.1834C>T	c.(1834-1836)Ctg>Ttg	p.L612L	RAI1_uc002grn.1_Silent_p.L612L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	612						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTCCGAGATCCTGGGGCTGCA	0.647000														26			26		0	0	0.003330	0	0
CD4	920	broad.mit.edu	37	12	6928051	6928051	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:6928051C>T	uc001qqv.2	+	8	1575	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	CD4_uc010sfj.2_Silent_p.L166L|CD4_uc009zfc.2_Silent_p.L260L|CD4_uc010sfl.2_Silent_p.L166L|CD4_uc010sfk.2_Silent_p.L166L|CD4_uc010sfm.1_Silent_p.L166L|GPR162_uc010sfn.1_5'Flank|GPR162_uc001qqw.1_5'Flank|GPR162_uc001qqx.1_5'Flank|GPR162_uc009zfd.1_5'Flank	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	439	HIV-1 Vpu-susceptibility domain.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AGAGACTCCTCAGTGAGAAGA	0.602000														18			20		0	0	0.012319	0	0
DOCK7	85440	broad.mit.edu	37	1	63084515	63084515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:63084515G>A	uc001daq.3	-	13	1578	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	DOCK7_uc001dan.3_Missense_Mutation_p.P407L|DOCK7_uc001dao.3_Missense_Mutation_p.P407L|DOCK7_uc001dap.3_Missense_Mutation_p.P515L|DOCK7_uc009wah.1_Missense_Mutation_p.P515L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	515					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTCAGGTGCGGGAGAAATGTC	0.373000														85			57		0	0	0.014410	0	0
SYDE2	84144	broad.mit.edu	37	1	85648237	85648237	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:85648237C>T	uc009wcm.3	-	2	2137	c.2088G>A	c.(2086-2088)cgG>cgA	p.R696R	SYDE2_uc001dku.4_Silent_p.R696R	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	696	C2.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTGAATCTATCCGAGGTGGTT	0.388000														29			23		0	0	0.002780	0	0
SCRN1	9805	broad.mit.edu	37	7	29980343	29980343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:29980343G>A	uc011kaa.2	-	4	803	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	SCRN1_uc011jzy.2_Missense_Mutation_p.H164Y|SCRN1_uc003tak.3_Missense_Mutation_p.H232Y|SCRN1_uc011jzz.2_Missense_Mutation_p.H232Y|SCRN1_uc011jzw.2_Intron|SCRN1_uc010kvp.3_Missense_Mutation_p.H232Y|SCRN1_uc011jzx.2_Missense_Mutation_p.H55Y	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	232					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTCTAGATGATCCTCAACT	0.498000														57			40		0	0	0.008740	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739113	15739113	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:15739113G>A	uc002nbi.3	+	11	1177	c.1113_splice	c.e11-1	p.W371_splice	CYP4F8_uc010xoj.2_Splice_Site_p.W184_splice	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	372					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTTCCTTAGGGACGACCTGGC	0.602000														65			41		0	0	0.007835	0	0
STAT1	6772	broad.mit.edu	37	2	191872349	191872349	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:191872349G>A	uc010fse.2	-	3	744	c.312C>T	c.(310-312)atC>atT	p.I104I	STAT1_uc021vue.1_5'UTR|STAT1_uc002usj.2_Silent_p.I104I|STAT1_uc002usk.2_Silent_p.I104I|STAT1_uc002usl.2_Silent_p.I106I|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	104					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AGCTGTAAATGATCATAGACA	0.308000														52			23		0	0	0.005443	0	0
NEB	4703	broad.mit.edu	37	2	152550915	152550915	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:152550915C>T	uc021vrb.1	-	17	1847	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G	NEB_uc002txu.3_Silent_p.G606G|NEB_uc021vrc.1_Silent_p.G606G|NEB_uc010fnx.3_Silent_p.G606G|NEB_uc021vrd.1_Silent_p.G606G|NEB_uc010fny.2_Silent_p.G160G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	606					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAATCATTTTCCCTTTGTTTT	0.443000														88			72		0	0	0.014410	0	0
PPOX	5498	broad.mit.edu	37	1	161140536	161140536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:161140536C>T	uc001fyj.2	+	10	1515	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	PPOX_uc001fyg.2_Missense_Mutation_p.H409Y|PPOX_uc010pkg.1_Missense_Mutation_p.H247Y|PPOX_uc001fyi.2_Missense_Mutation_p.H247Y|PPOX_uc010pkh.1_Missense_Mutation_p.H154Y	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	409					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GATGCCGAGCCACTGCTTGGT	0.507000														23			87		0	0	0.014410	0	0
GABRP	2568	broad.mit.edu	37	5	170235729	170235729	+	Missense_Mutation	SNP	G	A	A	rs139800251	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:170235729G>A	uc003mau.3	+	7	1003	c.805G>A	c.(805-807)Gat>Aat	p.D269N	GABRP_uc011dev.2_Missense_Mutation_p.D269N	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	269						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GATCTCTCTCGATTCAGTCCC	0.423000														31			25		0	0	0.008361	0	0
abParts	0	broad.mit.edu	37	2	89976397	89976397	+	RNA	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:89976397A>T	uc010yts.2	+	10		c.1694A>T								Parts of antibodies, mostly variable regions.																		ATTCAGCGGCAGTGGGTCAGG	0.512000														94			60		0	0	0.014410	0	0
CRB1	23418	broad.mit.edu	37	1	197446914	197446914	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:197446914C>T	uc001gtz.3	+	11	4335	c.4126C>T	c.(4126-4128)Cag>Tag	p.Q1376*	CRB1_uc010poz.2_Nonsense_Mutation_p.Q1352*|CRB1_uc009wza.3_Nonsense_Mutation_p.Q1264*|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Nonsense_Mutation_p.Q840*|CRB1_uc010ppd.2_Nonsense_Mutation_p.Q857*	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1376					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1376Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AAGGGCAACTCAGGGAACCTA	0.527000														80			21		0	0	0.010504	0	0
TLR4	7099	broad.mit.edu	37	9	120475197	120475197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:120475197G>A	uc004bjz.3	+	2	1082	c.791G>A	c.(790-792)aGa>aAa	p.R264K	TLR4_uc004bkb.3_Missense_Mutation_p.R64K|TLR4_uc004bka.3_Missense_Mutation_p.R224K	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	264					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGAGAATTTAGAAATGAAGGA	0.358000														43			46		0	0	0.014410	0	0
SGCG	6445	broad.mit.edu	37	13	23869576	23869576	+	Silent	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:23869576A>G	uc001uom.2	+	5	683	c.528A>G	c.(526-528)gaA>gaG	p.E176E	SGCG_uc009zzv.2_Silent_p.E176E|SGCG_uc009zzw.2_Silent_p.E176E	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	176					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CTCTTTTTGAACATTCAGTGG	0.388000														76			58		0	0	0.014410	0	0
HRH3	11255	broad.mit.edu	37	20	60791346	60791346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:60791346G>A	uc002yci.3	-	2	1351	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	HRH3_uc002ycf.2_Missense_Mutation_p.R352W|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	352					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TTCCTGTCCCGAGACAGCCGA	0.632000														15			10		0	0	0.010729	0	0
IKZF2	22807	broad.mit.edu	37	2	213872467	213872467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:213872467G>A	uc002vem.3	-	7	1367	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	IKZF2_uc010fuu.3_Missense_Mutation_p.P255S|IKZF2_uc002vej.3_Missense_Mutation_p.P347S|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.P326S|IKZF2_uc002vel.3_Missense_Mutation_p.P321S|IKZF2_uc010fuw.3_Missense_Mutation_p.P174S|IKZF2_uc010fux.3_Missense_Mutation_p.P174S|IKZF2_uc010fuy.3_Missense_Mutation_p.P328S|IKZF2_uc002ven.3_Missense_Mutation_p.P374S|IKZF2_uc002vei.3_Missense_Mutation_p.P178S	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CTATTGCTGGGAGAGGCCTCT	0.507000														72			54		0	0	0.014410	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435702	145435702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:145435702C>T	uc003lnt.3	+	7	1719	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	SH3RF2_uc011dbl.1_Missense_Mutation_p.P494L|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	494							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAGTCAACCCCGTGAGAAGC	0.567000														71			48		0	0	0.014410	0	0
AOX1	316	broad.mit.edu	37	2	201462197	201462197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:201462197G>A	uc002uvx.3	+	3	379	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	93					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAAGGCATAGGAAGCACCCAC	0.478000														34			19		0	0	0.004656	0	0
NFE2	4778	broad.mit.edu	37	12	54686866	54686866	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:54686866G>A	uc009znk.3	-	1	924	c.414C>T	c.(412-414)ccC>ccT	p.P138P	NFE2_uc001sfq.3_Silent_p.P138P|NFE2_uc001sfr.4_Silent_p.P138P|NFE2_uc009znl.3_Silent_p.P138P	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	138	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGTCTTCTTGGGGCTTAGGTG	0.597000														62			33		0	0	0.003271	0	0
ELF3	1999	broad.mit.edu	37	1	201981877	201981877	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:201981877C>T	uc001gxg.4	+	3	3780	c.588C>T	c.(586-588)gtC>gtT	p.V196V	ELF3_uc001gxi.4_Silent_p.V196V|ELF3_uc001gxh.4_Silent_p.V196V	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	196					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCTCTGACGTCTCCACCGCAG	0.662000														19			63		0	0	0.014410	0	0
ARL4A	10124	broad.mit.edu	37	7	12728093	12728093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:12728093C>T	uc003ssp.3	+	1	520	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	ARL4A_uc003ssq.3_Missense_Mutation_p.H72Y|ARL4A_uc021zzq.1_Missense_Mutation_p.H72Y|ARL4A_uc003sss.3_Missense_Mutation_p.H72Y|ARL4A_uc021zzr.1_Missense_Mutation_p.H72Y	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA.	72					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AGTCACTTTTCACTTCTGGGA	0.398000														38			15		0	0	0.006122	0	0
CLCA2	9635	broad.mit.edu	37	1	86905990	86905990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:86905990G>A	uc001dlr.4	+	7	1525	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	455	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.E454*(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AAATCTGGAGGAATTATCACG	0.398000														23			22		0	0	0.003330	0	0
HCRTR2	3062	broad.mit.edu	37	6	55145171	55145171	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:55145171G>A	uc003pcl.3	+	5	1349	c.1034G>A	c.(1033-1035)tGg>tAg	p.W345*	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	345					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGTATGCCTGGTTTACCTTT	0.363000														127			31		0	0	0.004878	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306992	2306992	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:2306992A>T	uc003gex.2	-	7	1395	c.1075T>A	c.(1075-1077)Ttg>Atg	p.L359M	ZFYVE28_uc011bvk.2_Missense_Mutation_p.L289M|ZFYVE28_uc011bvl.2_Missense_Mutation_p.L329M|ZFYVE28_uc003gew.2_Missense_Mutation_p.L245M	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	359					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGTGAAAGCAAAGAGGACATC	0.677000														29			16		0	0	0.003163	0	0
OR2G6	391211	broad.mit.edu	37	1	248684978	248684978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:248684978G>A	uc001ien.1	+	0	31	c.31G>A	c.(31-33)Gga>Aga	p.G11R		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G11E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTGAAAAGGGATTTCTTCT	0.418000														122			33		0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179454889	179454889	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179454889C>T	uc021vsy.1	-	252	54084	c.53859G>A	c.(53857-53859)aaG>aaA	p.K17953K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K11648K|TTN_uc021vta.1_Silent_p.K11581K|TTN_uc021vtb.1_Silent_p.K11456K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18880	Fibronectin type-III 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTCCACCCTCTTTTCTCGGA	0.438000														76			58		0	0	0.014410	0	0
UBR4	23352	broad.mit.edu	37	1	19464561	19464561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:19464561C>T	uc001bbi.3	-	59	8850	c.8846G>A	c.(8845-8847)gGa>gAa	p.G2949E	UBR4_uc001bbk.1_Missense_Mutation_p.G596E	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2949					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAGCCATCTCCCTCCTGGTG	0.557000														20			15		0	0	0.002450	0	0
TMEM177	80775	broad.mit.edu	37	2	120438540	120438540	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:120438540C>T	uc021vnk.1	+	0	111	c.111C>T	c.(109-111)ttC>ttT	p.F37F	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Silent_p.F37F|TMEM177_uc002tmc.1_Silent_p.F37F|TMEM177_uc002tmd.2_Silent_p.F37F|TMEM177_uc010flh.3_Silent_p.F37F	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	37						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					ACCACCTCTTCCCGGATCCCG	0.612000														60			45		0	0	0.014410	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793439	49793439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:49793439C>T	uc002pmz.3	-	11	2386	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	SLC6A16_uc002pna.3_3'UTR	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	718						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGAATTTCTTCCTTTTGAACC	0.438000														60			62		0	0	0.014410	0	0
SMYD4	114826	broad.mit.edu	37	17	1686396	1686396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:1686396G>A	uc002ftm.4	-	9	2362	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	SMYD4_uc002ftn.1_Missense_Mutation_p.R587C	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	732							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GGCCCGTGGCGAACCTCCACC	0.512000														46			41		0	0	0.009718	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481855	142481855	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:142481855G>A	uc011ksq.2	+	3	617	c.534G>A	c.(532-534)aaG>aaA	p.K178K	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ACCCTTTAAAGATTACCAGCA	0.527000														71			53		0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158639499	158639499	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:158639499C>T	uc001fst.1	-	13	1876	c.1677_splice	c.e13+1	p.G559_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	559					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGGACATACCCCGTCACGGA	0.438000														318			60		0	0	0.014410	0	0
FCRL5	83416	broad.mit.edu	37	1	157494225	157494225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:157494225G>A	uc009wsm.3	-	9	2241	c.2083C>T	c.(2083-2085)Cat>Tat	p.H695Y	FCRL5_uc001fqu.3_Missense_Mutation_p.H695Y|FCRL5_uc010phv.1_Missense_Mutation_p.H695Y|FCRL5_uc010phw.1_Missense_Mutation_p.H610Y	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	695	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCTTCATGATAAAACCAG	0.572000														107			21		0	0	0.014323	0	0
GLI2	2736	broad.mit.edu	37	2	121745787	121745787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:121745787C>T	uc010flp.3	+	12	2327	c.2297C>T	c.(2296-2298)tCc>tTc	p.S766F	GLI2_uc002tmq.1_Missense_Mutation_p.S438F|GLI2_uc002tmr.1_Missense_Mutation_p.S421F|GLI2_uc002tmt.4_Missense_Mutation_p.S438F|GLI2_uc002tmu.4_Missense_Mutation_p.S421F	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	766					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCGCAGGCTCCATCCTGGAA	0.682000														25			17		0	0	0.007413	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872465	35872465	+	Silent	SNP	G	A	A	rs141298006		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:35872465G>A	uc001wtf.4	-	2	548	c.438C>T	c.(436-438)acC>acT	p.T146T		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	146					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGTGTAGGGGGGTATTTCCTC	0.597000														75			34		0	0	0.004878	0	0
HRASLS	57110	broad.mit.edu	37	3	192973511	192973511	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:192973511C>T	uc003fta.3	+	1	477	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	Homo sapiens HRAS-like suppressor (HRASLS), mRNA.	24										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		TCGAAGTGTTCCGTCCTGGCT	0.493000														64			58		0	0	0.014410	0	0
PALM	5064	broad.mit.edu	37	19	746457	746458	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:746457_746458CC>TT	uc002lpm.1	+	8	1001_1002	c.807_808CC>TT	c.(805-810)tcccgg>tcTTgg	p.R270W	PALM_uc002lpn.1_Missense_Mutation_p.R226W|PALM_uc010xfu.1_Missense_Mutation_p.R135W	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	270					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CCACGCCCTCCCGGCGGGAGAT	0.733000														8			9		0	0	0.004672	0	0
PTGFR	5737	broad.mit.edu	37	1	78958579	78958579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:78958579C>T	uc001din.3	+	1	417	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	PTGFR_uc001dim.3_Missense_Mutation_p.L51F	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	51					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATCGCCATTCTCATGAAGGC	0.443000														66			39		0	0	0.006999	0	0
BCAS1	8537	broad.mit.edu	37	20	52645101	52645101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:52645101G>A	uc002xws.2	-	3	891	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	BCAS1_uc010zzb.1_Missense_Mutation_p.P88S|BCAS1_uc010gim.2_Missense_Mutation_p.P88S|BCAS1_uc002xwt.2_Missense_Mutation_p.P185S|BCAS1_uc010gil.1_Missense_Mutation_p.P185S|BCAS1_uc010zzc.2_Missense_Mutation_p.P88S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	185						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGCTTGGAGGGAGCTTCTCCT	0.592000														63			87		0	0	0.014410	0	0
PRTG	283659	broad.mit.edu	37	15	55974628	55974628	+	Missense_Mutation	SNP	G	A	A	rs143548115		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:55974628G>A	uc002adg.3	-	3	658	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	204	Ig-like 2.				multicellular organismal development	integral to membrane		p.R204C(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCAATACAACGATAATTTCCA	0.423000														19			28		0	0	0.008361	0	0
STAT5A	6776	broad.mit.edu	37	17	40456591	40456592	+	Missense_Mutation	DNP	CC	TT	TT	rs150767426		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:40456591_40456592CC>TT	uc002hzj.2	+	11	1943_1944	c.1301_1302CC>TT	c.(1300-1302)tcc>tTT	p.S434F	STAT5A_uc010cya.2_Missense_Mutation_p.S434F|STAT5A_uc010cyb.2_Missense_Mutation_p.S434F|STAT5A_uc010cyc.2_Missense_Mutation_p.S404F|STAT5A_uc010cyd.1_5'Flank|STAT5A_uc010cye.1_5'Flank	NM_003152	NP_003143	P42229	STA5A_HUMAN	Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.	434					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GGTGCAGAGTCCGTGACAGAGG	0.579000														43			17		0	0	0.004672	0	0
RXFP1	59350	broad.mit.edu	37	4	159514616	159514616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:159514616C>T	uc003ipz.3	+	2	514	c.251C>T	c.(250-252)tCc>tTc	p.S84F	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_Missense_Mutation_p.S3F|RXFP1_uc010iqo.3_Missense_Mutation_p.S84F|RXFP1_uc011cjb.2_Missense_Mutation_p.S3F|RXFP1_uc011cjc.2_Missense_Mutation_p.S3F|RXFP1_uc011cjd.2_Missense_Mutation_p.S3F|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Missense_Mutation_p.S84F|RXFP1_uc010iqm.3_Intron|RXFP1_uc011cjf.2_Intron|RXFP1_uc010iqn.3_Missense_Mutation_p.S3F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	84						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAAATGACTTCCCAATATCCT	0.323000														26			13		0	0	0.004007	0	0
SGCG	6445	broad.mit.edu	37	13	23777974	23777974	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:23777974C>T	uc001uom.2	+	1	296	c.141C>T	c.(139-141)ctC>ctT	p.L47L	SGCG_uc009zzv.2_Silent_p.L47L|SGCG_uc009zzw.2_Silent_p.L47L	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	47					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		TCATCATCCTCGTTGTGAATT	0.368000														54			18		0	0	0.008871	0	0
QRICH2	84074	broad.mit.edu	37	17	74288700	74288700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:74288700G>A	uc002jrd.1	-	3	1790	c.1610C>T	c.(1609-1611)cCt>cTt	p.P537L	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	537	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ATCTGCACCAGGTTGCACCAC	0.517000														80			41		0	0	0.009718	0	0
TLE4	7091	broad.mit.edu	37	9	82323515	82323515	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:82323515C>T	uc004ald.3	+	13	2001	c.1152C>T	c.(1150-1152)agC>agT	p.S384S	TLE4_uc004alc.3_Silent_p.S359S|TLE4_uc010mpr.3_Silent_p.S238S|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.S327S|TLE4_uc010mps.3_Silent_p.S283S|TLE4_uc004alf.3_Silent_p.S298S	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGCCTCAAGCCTAAGGACCC	0.468000														93			47		0	0	0.014410	0	0
LOC440040	440040	broad.mit.edu	37	11	49598041	49598041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:49598041G>A	uc010rhy.2	+	1	632	c.154G>A	c.(154-156)Gac>Aac	p.D52N	LOC440040_uc009ymb.3_Missense_Mutation_p.D52N					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		GATCAATTCAGACCCCACACT	0.522000														7			3		0	0	0.004672	0	0
KRT33B	3884	broad.mit.edu	37	17	39525754	39525754	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:39525754C>T	uc002hwl.3	-	0	294	c.249G>A	c.(247-249)gaG>gaA	p.E83E		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	83	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity	p.A82A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGTTCTCCAGCTCCGCGTTGT	0.607000														42			34		0	0	0.004289	0	0
ITGBL1	9358	broad.mit.edu	37	13	102344979	102344979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:102344979C>T	uc001vpb.3	+	7	1279	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	ITGBL1_uc010agb.3_Missense_Mutation_p.R305C|ITGBL1_uc001vpc.4_Missense_Mutation_p.R213C	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	354	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.D353Y(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCAGGAGATCGCCGGGTGTA	0.488000														61			39		0	0	0.004878	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303953	151303953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:151303953G>A	uc022cgz.1	-	0	140	c.140C>T	c.(139-141)tCt>tTt	p.S47F	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.S47F|MAGEA10_uc004ffm.2_Missense_Mutation_p.S47F|MAGEA10_uc004ffl.3_Missense_Mutation_p.S47F	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	47										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ggatggaaaagaggagCTGGT	0.542000														3			26		0	0	0.003954	0	0
IQSEC3	440073	broad.mit.edu	37	12	278224	278224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:278224C>T	uc001qhw.2	+	11	3017	c.3017C>T	c.(3016-3018)cCc>cTc	p.P1006L	IQSEC3_uc001qhu.1_Missense_Mutation_p.P703L	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	1006					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCCTTCAAGCCCTGCGGAGCC	0.612000														50			34		0	0	0.005524	0	0
LMX1A	4009	broad.mit.edu	37	1	165218805	165218805	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:165218805C>T	uc001gcz.2	-	3	530	c.336G>A	c.(334-336)aaG>aaA	p.K112K	LMX1A_uc021pdz.1_Silent_p.K112K	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	112	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGTATACACTCTTCTGGGCCC	0.547000														54			20		0	0	0.010504	0	0
TMEM119	338773	broad.mit.edu	37	12	108985566	108985566	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:108985566C>T	uc001tng.3	-	1	757	c.594G>A	c.(592-594)agG>agA	p.R198R	TMEM119_uc021rdl.1_Silent_p.R198R	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	198						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCTCCACCATCCTGGCTCCGT	0.687000														21			18		0	0	0.007413	0	0
COL22A1	169044	broad.mit.edu	37	8	139701184	139701184	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:139701184C>T	uc003yvd.3	-	36	3285	c.2838G>A	c.(2836-2838)ggG>ggA	p.G946G	COL22A1_uc011ljo.2_Silent_p.G246G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	946	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCCATCTTTCCCTGGGGTGC	0.522000										HNSCC(7;0.00092)				55			42		0	0	0.008740	0	0
MTIF3	219402	broad.mit.edu	37	13	28014234	28014234	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:28014234G>A	uc001urh.3	-	0	1576	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	MTIF3_uc021rhl.1_Nonsense_Mutation_p.Q118*|MTIF3_uc001uri.3_Nonsense_Mutation_p.Q118*|MTIF3_uc021rhm.1_Nonsense_Mutation_p.Q118*|MTIF3_uc001urj.3_Nonsense_Mutation_p.Q118*|MTIF3_uc001urk.3_Nonsense_Mutation_p.Q118*	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	Homo sapiens mitochondrial translational initiation factor 3 (MTIF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	118					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		GTGTTCCTTTGAACCAGTCGC	0.502000														45			27		0	0	0.005443	0	0
NLRP3	114548	broad.mit.edu	37	1	247588406	247588406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:247588406C>T	uc001icr.3	+	4	1799	c.1661C>T	c.(1660-1662)cCc>cTc	p.P554L	NLRP3_uc001ics.3_Missense_Mutation_p.P554L|NLRP3_uc001icu.3_Missense_Mutation_p.P554L|NLRP3_uc001icw.3_Missense_Mutation_p.P554L|NLRP3_uc001icv.3_Missense_Mutation_p.P554L|NLRP3_uc010pyw.2_Missense_Mutation_p.P552L|NLRP3_uc001ict.1_Missense_Mutation_p.P552L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	554					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTGAAGCTTCCCAGCCGAGAC	0.478000														62			11		0	0	0.008291	0	0
LGSN	51557	broad.mit.edu	37	6	63995556	63995556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:63995556C>T	uc003peh.3	-	2	300	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	LGSN_uc003pei.3_Missense_Mutation_p.R89Q|LGSN_uc003pej.1_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	89					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.R89*(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGCTTCAAATCGTACAAACTG	0.433000														503			19		0	0	0.007413	0	0
TEKT3	64518	broad.mit.edu	37	17	15212126	15212126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:15212126C>T	uc002gon.3	-	7	1298	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	371					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGGAAAATCTCCTGCAGGGTC	0.537000														45			31		0	0	0.003755	0	0
SF3B3	23450	broad.mit.edu	37	16	70562804	70562804	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:70562804C>T	uc002ezf.3	+	2	310	c.99C>T	c.(97-99)tcC>tcT	p.S33S	SNORD111B_uc010cfv.2_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	33					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTGTTGTTTCCCGTGGGAAGA	0.478000														38			26		0	0	0.013726	0	0
UBR4	23352	broad.mit.edu	37	1	19499520	19499520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:19499520G>A	uc001bbi.3	-	24	3363	c.3359C>T	c.(3358-3360)tCc>tTc	p.S1120F	UBR4_uc001bbm.1_Missense_Mutation_p.S331F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1120					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTGTAGATGGACTGCAGACT	0.438000														35			19		0	0	0.014323	0	0
PLCG2	5336	broad.mit.edu	37	16	81944272	81944272	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:81944272C>T	uc002fgt.3	+	17	2059	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	PLCG2_uc010chg.1_Silent_p.F627F	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	627	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCGCCGAGTTCGAGCTGCGGC	0.632000														135			87		0	0	0.014410	0	0
CASP10	843	broad.mit.edu	37	2	202050821	202050821	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:202050821C>T	uc002uxj.1	+	1	739	c.321C>T	c.(319-321)ccC>ccT	p.P107P	CASP10_uc002uxi.1_Silent_p.P107P|CASP10_uc010zhn.1_Non-coding_Transcript|CASP10_uc010ftb.2_Silent_p.P107P|CASP10_uc010fta.1_Silent_p.P107P|CASP10_uc002uxk.1_Silent_p.P107P|CASP10_uc002uxl.2_Silent_p.P107P|CASP10_uc002uxm.2_Silent_p.P107P	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	107					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GACTGCTGCCCACCCGACAAA	0.522000														33			16		0	0	0.006122	0	0
LPO	4025	broad.mit.edu	37	17	56332270	56332270	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:56332270C>A	uc002ivt.3	+	8	1520	c.1204C>A	c.(1204-1206)Cct>Act	p.P402T	LPO_uc010wns.2_Missense_Mutation_p.P343T|LPO_uc010dcp.3_Missense_Mutation_p.P319T|LPO_uc010dcq.3_Missense_Mutation_p.P73T|LPO_uc010dcr.3_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	402					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P402H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GAGACTCAACCCTCAGTGGGA	0.572000														108			49		1.32667e-27	1.41683e-27	0.014410	1	0
KCTD6	200845	broad.mit.edu	37	3	58486826	58486826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:58486826G>A	uc003dkj.4	+	2	298	c.181G>A	c.(181-183)Gat>Aat	p.D61N	KCTD6_uc003dkk.4_Missense_Mutation_p.D61N	NM_001128214	NP_699162	Q8NC69	KCTD6_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 6 (KCTD6), transcript variant 2, mRNA.	61	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TATTGATCGAGATGGACCTCT	0.458000														41			23		0	0	0.012319	0	0
OR4K15	81127	broad.mit.edu	37	14	20444710	20444710	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:20444710C>T	uc010tkx.2	+	0	1033	c.1033C>T	c.(1033-1035)Cta>Tta	p.L345L		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	345					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTCTTTTCCTAGAAACAAA	0.388000														14			7		0	0	0.006214	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307026	120307027	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:120307026_120307027CC>TT	uc001eid.3	-	1	415_416	c.327_328GG>AA	c.(325-330)gtggtg>gtAAtg	p.V110M	HMGCS2_uc010oxj.2_Missense_Mutation_p.V110M|HMGCS2_uc021osx.1_Missense_Mutation_p.V18M	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGCCGTTGCACCACCGTCAGGC	0.540000														411			235		0	0	0.004672	0	0
RGPD4	285190	broad.mit.edu	37	2	108488493	108488493	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:108488493G>C	uc010ywk.2	+	19	4115	c.4033G>C	c.(4033-4035)Gtt>Ctt	p.V1345L	RGPD4_uc002tdu.3_Missense_Mutation_p.V532L|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1345	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACCTGATCTAGTTGAAGTATC	0.403000														157			82		0	0	0.014410	0	0
CTIF	9811	broad.mit.edu	37	18	46190122	46190123	+	Splice_Site	DNP	GA	AT	AT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:46190122_46190123GA>AT	uc002ldd.3	+	5	612	c.253_splice	c.e5-1	p.N85_splice	CTIF_uc002ldc.3_Splice_Site_p.N85_splice	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	85	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						ATCTCTTCCAGAATGGCAGCAA	0.604000											OREG0024970	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			32		0	0	0.004672	0	0
GRM8	2918	broad.mit.edu	37	7	126249504	126249504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:126249504C>T	uc003vlr.2	-	6	1717	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G469E|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	469					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATCATAACGTCCAGGAGCATC	0.388000										HNSCC(24;0.065)				30			27		0	0	0.004656	0	0
C7orf45	136263	broad.mit.edu	37	7	129847778	129847778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:129847778G>A	uc003vpp.3	+	0	75	c.28G>A	c.(28-30)Gag>Aag	p.E10K	TMEM209_uc003vpn.2_5'Flank|TMEM209_uc010lmc.1_5'Flank|TMEM209_uc003vpo.2_5'Flank	NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	10						integral to membrane				endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					CTTATTTTGGGAGGTAGATCC	0.433000														47			47		0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126367457	126367457	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:126367457C>T	uc003ifj.4	+	7	7203	c.7203C>T	c.(7201-7203)atC>atT	p.I2401I	FAT4_uc011cgp.2_Silent_p.I699I|FAT4_uc003ifi.1_5'Flank	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2401	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2400M(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTTATAGGATCATCGGTGGAA	0.343000														23			24		0	0	0.004656	0	0
MYH11	4629	broad.mit.edu	37	16	15844056	15844056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:15844056G>A	uc002ddx.3	-	16	2125	c.2018C>T	c.(2017-2019)aCc>aTc	p.T673I	MYH11_uc002ddv.3_Missense_Mutation_p.T673I|MYH11_uc002ddw.3_Missense_Mutation_p.T666I|MYH11_uc002ddy.3_Missense_Mutation_p.T666I|MYH11_uc010bvg.3_Missense_Mutation_p.T498I|MYH11_uc002dea.1_Missense_Mutation_p.T372I	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	666	Actin-binding (By similarity).|Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.T672M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGTAGCGTGGTCATCAGCTT	0.637000			T	CBFB	AML									47			24		0	0	0.006320	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36407653	36407653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:36407653C>T	uc021wdj.1	+	9	1038	c.947C>T	c.(946-948)tCc>tTc	p.S316F	CTNNBL1_uc002xhh.3_Missense_Mutation_p.S129F|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Missense_Mutation_p.S64F	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	316					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGTTTGATTCCCTCTGCTCC	0.478000														31			24		0	0	0.003330	0	0
WNT10A	80326	broad.mit.edu	37	2	219757713	219757713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:219757713C>T	uc002vjd.1	+	3	1437	c.974C>T	c.(973-975)cCc>cTc	p.P325L		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	325					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ccgggcgctcccgggccgcgc	0.766000														5			7		0	0	0.001984	0	0
SIPA1	6494	broad.mit.edu	37	11	65408787	65408787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:65408787C>T	uc001ofb.2	+	1	562	c.395C>T	c.(394-396)tCt>tTt	p.S132F	SIPA1_uc010rom.1_Missense_Mutation_p.S132F|SIPA1_uc001ofd.2_Missense_Mutation_p.S132F	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	132					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCTCCGAGGTCTCAGGGGATG	0.627000														39			25		0	0	0.003954	0	0
CASKIN1	57524	broad.mit.edu	37	16	2237453	2237453	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:2237453G>A	uc010bsg.1	-	6	659	c.627C>T	c.(625-627)ctC>ctT	p.L209L		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	209					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCCGGCTTGGAGGAGGAGCC	0.677000														16			20		0	0	0.008871	0	0
KCNH6	81033	broad.mit.edu	37	17	61621705	61621705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:61621705G>A	uc002jay.3	+	11	2517	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	KCNH6_uc010wpl.2_Missense_Mutation_p.E654K|KCNH6_uc010wpm.2_Missense_Mutation_p.E777K|KCNH6_uc002jaz.1_Missense_Mutation_p.E724K	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	813					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AAGCCCTCAGGAAGACCCAGA	0.622000														16			41		0	0	0.006999	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059584	11059584	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:11059584C>T	uc010hdq.3	+	3	705	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	98					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCCCACTCTTCCTGCTGGAGT	0.567000														79			47		0	0	0.014410	0	0
SLC35F4	341880	broad.mit.edu	37	14	58030954	58030954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:58030954C>T	uc021rtp.1	-	7	1403	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Missense_Mutation_p.E330K	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.									p.F452L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCTTCTTTTCCTTCAGGCTG	0.522000														11			7		0	0	0.001984	0	0
RADIL	55698	broad.mit.edu	37	7	4874663	4874663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:4874663C>T	uc003snj.1	-	3	1164	c.991G>A	c.(991-993)Gag>Aag	p.E331K	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.E91K|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	331	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TGCCCCACCTCGGAGAAGTTG	0.706000														9			5		0	0	0.001168	0	0
CDH16	1014	broad.mit.edu	37	16	66944308	66944308	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:66944308G>T	uc002eql.3	-	14	2216	c.2022C>A	c.(2020-2022)taC>taA	p.Y674*	CDH16_uc010cdy.3_Nonsense_Mutation_p.Y652*|CDH16_uc021tjx.1_Intron|CDH16_uc002eqm.3_Nonsense_Mutation_p.Y577*	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	674	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGTGCAGAGGTATTGGGAGG	0.627000														38			33		1.30998e-17	1.39675e-17	0.005524	1	0
COL2A1	1280	broad.mit.edu	37	12	48368607	48368607	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:48368607C>T	uc001rqu.3	-	51	4106	c.3925G>A	c.(3925-3927)Gac>Aac	p.D1309N	COL2A1_uc001rqt.3_Missense_Mutation_p.D90N|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.D1240N	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1309	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.L1309I(1)|p.F1308F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTCATGGCGTCCAAGGTGCAG	0.552000														61			32		0	0	0.006230	0	0
CYP26C1	340665	broad.mit.edu	37	10	94824257	94824257	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:94824257G>A	uc010qns.2	+	3	825	c.825G>A	c.(823-825)agG>agA	p.R275R	CYP26C1_uc009xud.3_Intron	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily C, polypeptide 1 (CYP26C1), mRNA.	275					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				ACAGTGCAAGGGAGCTGGGCC	0.592000														47			24		0	0	0.006320	0	0
PGBD1	84547	broad.mit.edu	37	6	28253470	28253470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:28253470C>T	uc003nky.3	+	2	959	c.539C>T	c.(538-540)cCc>cTc	p.P180L	PGBD1_uc003nkz.3_Missense_Mutation_p.P180L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	180					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAAGGGAACCCCCAAGAAGTG	0.532000														10			41		0	0	0.014410	0	0
NAV3	89795	broad.mit.edu	37	12	78362305	78362305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:78362305G>A	uc001syp.3	+	4	667	c.494G>A	c.(493-495)aGa>aAa	p.R165K	NAV3_uc001syo.3_Missense_Mutation_p.R165K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	165	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAGAAATAAGAAATGGAAAC	0.308000										HNSCC(70;0.22)				37			16		0	0	0.004007	0	0
KLRAP1	10748	broad.mit.edu	37	12	10750678	10750678	+	RNA	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:10750678C>T	uc010shf.2	-	1		c.445G>A			KLRAP1_uc010shg.2_Non-coding_Transcript|KLRAP1_uc009zho.3_Non-coding_Transcript|KLRAP1_uc009zhn.3_Non-coding_Transcript					Homo sapiens killer cell lectin-like receptor subfamily A pseudogene 1 (KLRAP1), non-coding RNA.											breast(1)|large_intestine(1)|lung(1)	3						TGAGTATCATCAGGCCTTAAT	0.368000														132			72		0	0	0.014410	0	0
BCMO1	53630	broad.mit.edu	37	16	81303936	81303936	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:81303936A>G	uc002fgn.1	+	6	1234	c.1016A>G	c.(1015-1017)aAc>aGc	p.N339S	BCMO1_uc010vnp.1_Missense_Mutation_p.N270S	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	339					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TACCTGGCCAACCTGAACCAG	0.572000														52			39		0	0	0.004878	0	0
CFB	629	broad.mit.edu	37	6	31918410	31918410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:31918410G>A	uc003nyj.4	+	12	1917	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	CFB_uc011dor.2_Missense_Mutation_p.D1049N|CFB_uc003nyi.2_Silent_p.G618G	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	547	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGAGAAGCGGGACCTGGAGAT	0.488000														38			212		0	0	0.014410	0	0
FRY	10129	broad.mit.edu	37	13	32745367	32745367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:32745367G>A	uc001utx.3	+	17	2607	c.2111G>A	c.(2110-2112)gGa>gAa	p.G704E	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	704					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAGACACAAGGAAAAGTCTAT	0.373000														19			24		0	0	0.002780	0	0
SLA2	84174	broad.mit.edu	37	20	35269708	35269709	+	Silent	DNP	GA	AC	AC			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:35269708_35269709GA>AC	uc002xfv.3	-	1	453_454	c.30_31TC>GT	c.(28-33)tctctg>tcGTtg	p.10_11SL>SL	SLA2_uc002xfu.3_Silent_p.10_11SL>SL	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA.	10					B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	SH3/SH2 adaptor activity|protein N-terminus binding			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGGCTTGGCAGAGATTTTCTTC	0.550000														43			28		0	0	0.004672	0	0
PCNT	5116	broad.mit.edu	37	21	47831873	47831873	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:47831873C>T	uc002zji.4	+	27	5993	c.5886C>T	c.(5884-5886)ccC>ccT	p.P1962P	PCNT_uc002zjj.3_Silent_p.P1844P	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1962					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CACGGGTGCCCGGGGCCCACC	0.697000														7			7		0	0	0.003080	0	0
MSGN1	343930	broad.mit.edu	37	2	17997862	17997862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:17997862C>T	uc010yjt.2	+	0	77	c.77C>T	c.(76-78)tCc>tTc	p.S26F		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	Homo sapiens mesogenin 1 (MSGN1), mRNA.	26					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCTGTCTTCCTGGGACTGG	0.602000														38			17		0	0	0.004990	0	0
PTPRU	10076	broad.mit.edu	37	1	29610486	29610486	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:29610486A>C	uc001bru.3	+	12	2306	c.2177A>C	c.(2176-2178)aAa>aCa	p.K726T	PTPRU_uc009vtq.3_Missense_Mutation_p.K726T|PTPRU_uc009vtr.3_Missense_Mutation_p.K726T|PTPRU_uc001brw.3_Missense_Mutation_p.K726T	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	726					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ATTGCCAGGAAAGGTAAGTCC	0.622000														85			45		0	0	0.014410	0	0
KLHL38	340359	broad.mit.edu	37	8	124658255	124658255	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:124658255C>T	uc003yqs.1	-	2	1494	c.1470G>A	c.(1468-1470)agG>agA	p.R490R		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	490										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AAGCAAGAATCCTCCTTGTGT	0.507000														32			20		0	0	0.007413	0	0
XIRP2	129446	broad.mit.edu	37	2	168101932	168101932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:168101932C>T	uc002udx.3	+	8	4119	c.4030C>T	c.(4030-4032)Cat>Tat	p.H1344Y	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H1169Y|XIRP2_uc010fpq.3_Missense_Mutation_p.H1122Y|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1169					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAGGTAATTCATGGAGATGT	0.383000														21			19		0	0	0.008871	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172136	47172136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:47172136G>A	uc001rpi.2	-	11	1408	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	SLC38A4_uc001rpj.2_Missense_Mutation_p.P337S	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	337					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ACTAGGATAGGAATTGCATAG	0.393000														18			17		0	0	0.007413	0	0
DEFB112	245915	broad.mit.edu	37	6	50011502	50011502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:50011502C>T	uc011dws.2	-	1	128	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	43					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					GATATGGTGCCCTTCACTTCT	0.408000														31			34		0	0	0.004878	0	0
LAMA2	3908	broad.mit.edu	37	6	129371128	129371128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:129371128G>A	uc021zfb.1	+	1	283	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	LAMA2_uc003qbn.3_Missense_Mutation_p.E60K|LAMA2_uc003qbo.3_Missense_Mutation_p.E60K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	60	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.E60A(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACATGTGGAGAAAAAGGACC	0.453000														7			20		0	0	0.008871	0	0
NETO1	81832	broad.mit.edu	37	18	70417514	70417514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:70417514C>T	uc002lkw.3	-	8	1608	c.1324G>A	c.(1324-1326)Ggc>Agc	p.G442S	NETO1_uc002lky.2_Missense_Mutation_p.G442S	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	442					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTGCGGCTGCCTTTAGTGCTG	0.468000														25			18		0	0	0.007413	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51048686	51048686	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:51048686T>G	uc003bmx.3	+	11	2464	c.2347T>G	c.(2347-2349)Tgc>Ggc	p.C783G	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.C756G|MAPK8IP2_uc011asc.2_Missense_Mutation_p.C138G	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	784	PID.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGCTTCGCCTGCCACGTCTT	0.647000														8			5		0	0	0.001168	0	0
OR52A5	390054	broad.mit.edu	37	11	5153501	5153501	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:5153501G>A	uc010qyx.2	-	0	372	c.372C>T	c.(370-372)cgC>cgT	p.R124R		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGCCACATAGCGATCCAGGG	0.468000														28			18		0	0	0.006122	0	0
AK302306	0	broad.mit.edu	37	15	28600114	28600114	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:28600114C>T	uc010uaf.1	-	2	234	c.216G>A	c.(214-216)agG>agA	p.R72R	DQ595648_uc021sgj.1_5'Flank					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																		CTAGCTCCCTCCTTAGGGCTT	0.502000														47			7		0	0	0.003080	0	0
TMEM214	54867	broad.mit.edu	37	2	27263281	27263281	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:27263281C>T	uc002ria.4	+	15	1970	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	TMEM214_uc002rib.4_Silent_p.F575F	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	620						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCCTGCTTTTCCACCAGAATG	0.587000														54			50		0	0	0.014410	0	0
RANBP17	64901	broad.mit.edu	37	5	170725792	170725792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:170725792G>A	uc003mba.3	+	27	3339	c.3197G>A	c.(3196-3198)aGa>aAa	p.R1066K	RANBP17_uc003mbb.3_Missense_Mutation_p.R391K|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	1066					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGTATTCAGAAGAGATGTG	0.502000			T	TRD@	ALL									23			19		0	0	0.003954	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67171744	67171744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:67171744C>T	uc001ola.3	+	1	100	c.71C>T	c.(70-72)tCc>tTc	p.S24F	PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Missense_Mutation_p.S24F|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	24						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCCTTGGGGTCCGACTCAGAG	0.682000														8			8		0	0	0.008291	0	0
PASK	23178	broad.mit.edu	37	2	242080011	242080011	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:242080011C>T	uc002wao.2	-	2	487	c.354G>A	c.(352-354)tgG>tgA	p.W118*	PASK_uc010zol.2_Intron|PASK_uc010zom.2_Nonsense_Mutation_p.W118*|PASK_uc010fzl.2_Nonsense_Mutation_p.W118*|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Nonsense_Mutation_p.W118*|PASK_uc002waq.3_Nonsense_Mutation_p.W118*	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	118					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGGTGAGGACCACCCTGAGG	0.607000														18			11		0	0	0.010729	0	0
FGFR1	2260	broad.mit.edu	37	8	38273437	38273437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:38273437G>A	uc022aua.1	-	12	2747	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.S633F|FGFR1_uc011lbv.2_Missense_Mutation_p.S600F|FGFR1_uc011lbw.2_Missense_Mutation_p.S513F|FGFR1_uc003xlp.3_Missense_Mutation_p.S600F|FGFR1_uc022aub.1_Missense_Mutation_p.S600F|FGFR1_uc022auc.1_Missense_Mutation_p.S513F|FGFR1_uc022aud.1_Missense_Mutation_p.S511F|FGFR1_uc010lwk.3_Missense_Mutation_p.S592F	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	602	Protein kinase.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GTAGGCGCAGGACACCAGGTC	0.642000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							28			12		0	0	0.013537	0	0
FTSJ3	117246	broad.mit.edu	37	17	61898924	61898924	+	Missense_Mutation	SNP	C	T	T	rs142875570		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:61898924C>T	uc002jbz.3	-	14	1754	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	FTSJ3_uc002jca.3_Missense_Mutation_p.R559Q	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	559					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCGTCCCTTCCGCCGGTTCTC	0.567000														63			28		0	0	0.005443	0	0
MYH13	8735	broad.mit.edu	37	17	10267715	10267715	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10267715C>G	uc002gmk.1	-	2	223	c.133G>C	c.(133-135)Gaa>Caa	p.E45Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	45	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACATACATTTCCTTATTATCC	0.448000														20			9		0	0	0.010729	0	0
URB2	9816	broad.mit.edu	37	1	229779425	229779425	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:229779425G>A	uc001hts.1	+	4	3916	c.3780G>A	c.(3778-3780)tgG>tgA	p.W1260*	URB2_uc009xfd.1_Nonsense_Mutation_p.W1260*	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1260						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTAACATGTGGAAAGCAGATG	0.522000														130			29		0	0	0.010818	0	0
EML5	161436	broad.mit.edu	37	14	89109309	89109309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:89109309G>A	uc021ryf.1	-	29	4414	c.4165C>T	c.(4165-4167)Cac>Tac	p.H1389Y	EML5_uc001xxf.3_Missense_Mutation_p.H176Y|EML5_uc021ryg.1_Missense_Mutation_p.H1389Y|EML5_uc001xxh.1_Missense_Mutation_p.H520Y	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1381						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTAAATAGTGAACATTATTC	0.358000														65			37		0	0	0.008740	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111825688	111825688	+	RNA	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:111825688C>T	uc009wgb.3	+	3		c.1207C>T								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		GCTGGCATCTCCAACATCCAG	0.517000														35			21		0	0	0.002780	0	0
ELK3	2004	broad.mit.edu	37	12	96640771	96640771	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:96640771C>T	uc001teo.1	+	2	540	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	87					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S86Y(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TTGTCTCTTTCCCGGAGATCC	0.532000														31			21		0	0	0.004656	0	0
CD55	1604	broad.mit.edu	37	1	207504512	207504512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:207504512C>T	uc001hfq.4	+	5	1018	c.724C>T	c.(724-726)Cat>Tat	p.H242Y	CD55_uc001hfr.4_Missense_Mutation_p.H242Y|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.H178Y|CD55_uc009xce.3_Missense_Mutation_p.H242Y	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	242	Sushi 4.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	p.H242Y(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GGAACGTGACCATTATGGATA	0.323000														88			21		0	0	0.014323	0	0
GML	2765	broad.mit.edu	37	8	143922636	143922636	+	Missense_Mutation	SNP	C	T	T	rs139347831		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:143922636C>T	uc003yxg.3	+	2	266	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	59	UPAR/Ly6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ATGACAATCTCCATTCGTAAG	0.453000														31			21		0	0	0.003954	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47570183	47570183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:47570183C>T	uc002xtx.4	+	5	846	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	232					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAAGTTCGTTCGTTTGAAGCA	0.473000														47			30		0	0	0.007291	0	0
PDS5A	23244	broad.mit.edu	37	4	39846297	39846297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:39846297G>A	uc003guv.4	-	29	4067	c.3527C>T	c.(3526-3528)cCt>cTt	p.P1176L		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	1176					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCCGGTTGAAGGGTTCAGCTC	0.388000														53			33		0	0	0.003271	0	0
WFS1	7466	broad.mit.edu	37	4	6302829	6302829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:6302829C>T	uc003giy.3	+	7	1473	c.1307C>T	c.(1306-1308)aCc>aTc	p.T436I	WFS1_uc003gix.3_Missense_Mutation_p.T436I|WFS1_uc003giz.3_Missense_Mutation_p.T254I	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	436					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCTGTCATCACCGGCTTCTTT	0.622000														241			146		0	0	0.014410	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623768	21623769	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21623768_21623769CT>TA	uc010tlp.2	-	0	416_417	c.416_417AG>TA	c.(415-417)aag>aTA	p.K139I		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCACTTTCCTCTTGGCCAAGAA	0.520000														33			17		0	0	0.004672	0	0
ZNF709	163051	broad.mit.edu	37	19	12575435	12575435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:12575435G>A	uc002mtv.4	-	3	1462	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	ZNF709_uc002mtw.4_Missense_Mutation_p.S402F|ZNF709_uc002mtx.4_Missense_Mutation_p.S434F	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TATTCGAACAGAACTGGAACA	0.413000														83			46		0	0	0.014410	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718588	103718588	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:103718588C>T	uc001vpy.4	-	0	609	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	4					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.P4Q(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACAGCTGTTCGGATCATTCA	0.517000														38			26		0	0	0.005443	0	0
USHBP1	83878	broad.mit.edu	37	19	17367358	17367358	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:17367358G>A	uc002nfs.1	-	8	1505	c.1392C>T	c.(1390-1392)gcC>gcT	p.A464A	USHBP1_uc002nfr.1_Silent_p.A90A|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.A400A	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	464							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TCCCCAGAATGGCCTGCACCA	0.612000														74			50		0	0	0.014410	0	0
CHD4	1108	broad.mit.edu	37	12	6697065	6697065	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:6697065G>A	uc001qpo.3	-	23	3680	c.3516C>T	c.(3514-3516)taC>taT	p.Y1172Y	CHD4_uc001qpn.3_Silent_p.Y1165Y|CHD4_uc001qpp.3_Silent_p.Y1169Y	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1172	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCACAAACCGGTAGATCATTA	0.512000														32			34		0	0	0.010818	0	0
PSMG3	84262	broad.mit.edu	37	7	1607429	1607429	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:1607429T>G	uc003skx.2	-	1	928	c.274A>C	c.(274-276)Aac>Cac	p.N92H	PSMG3_uc011jvx.1_Missense_Mutation_p.N92H|KIAA1908_uc003sla.3_5'Flank	NM_032302	NP_115678	Q9BT73	PSMG3_HUMAN	Homo sapiens proteasome (prosome, macropain) assembly chaperone 3 (PSMG3), transcript variant 1, mRNA.	92										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		ACTGCTCTGTTTCCAGCTTCT	0.537000														24			24		0	0	0.007291	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036293	60036293	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:60036293G>A	uc002lin.3	+	8	1181	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	381					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGAGGTGGGGGAGAATGACA	0.552000														22			21		0	0	0.002780	0	0
FAM75D1	389763	broad.mit.edu	37	9	84610012	84610012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:84610012C>T	uc004amn.3	+	3	4674	c.4627C>T	c.(4627-4629)Cca>Tca	p.P1543S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1543						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TCCAGCCGTCCCAACCAGTGC	0.527000														5			9		0	0	0.004482	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387795	46387795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:46387795G>A	uc002pds.1	-	0	1582	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGTCTCAGCGGAGTACGGGCC	0.716000														22			15		0	0	0.008871	0	0
PVRL4	81607	broad.mit.edu	37	1	161044516	161044516	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:161044516C>T	uc001fxo.2	-	4	1184	c.885G>A	c.(883-885)gtG>gtA	p.V295V	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Silent_p.V29V	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	295	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGTCCCCATCCACTCGTACCC	0.602000														44			12		0	0	0.002450	0	0
KIAA0391	9692	broad.mit.edu	37	14	35593368	35593368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:35593368C>T	uc001wsy.1	+	1	1277	c.917C>T	c.(916-918)tCa>tTa	p.S306L	KIAA0391_uc010tps.1_Missense_Mutation_p.S211L|KIAA0391_uc001wsz.1_Missense_Mutation_p.S306L|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	306					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GATATTCTTTCATATCTAAGA	0.284000														23			14		0	0	0.004007	0	0
SIM1	6492	broad.mit.edu	37	6	100841684	100841684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:100841684G>A	uc003pqj.4	-	9	1716	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S	SIM1_uc021zdg.1_Missense_Mutation_p.P417S|SIM1_uc010kcu.3_Missense_Mutation_p.P417S	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	417	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGAAGCTGCGGAGAGGCCGTG	0.587000														5			17		0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82585618	82585618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:82585618C>T	uc003uhx.2	-	4	4940	c.4651G>A	c.(4651-4653)Gaa>Aaa	p.E1551K	PCLO_uc003uhv.2_Missense_Mutation_p.E1551K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1482					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCTCCTCTTCCCCTGATCCT	0.413000														46			31		0	0	0.009535	0	0
TRIM54	57159	broad.mit.edu	37	2	27521478	27521478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:27521478C>T	uc002rjo.3	+	1	515	c.212C>T	c.(211-213)tCt>tTt	p.S71F	TRIM54_uc002rjn.3_Missense_Mutation_p.S71F	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	71					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCACTGTGTCTTCAGGAGGC	0.602000														31			15		0	0	0.003163	0	0
NR5A2	2494	broad.mit.edu	37	1	200008808	200008808	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:200008808C>T	uc001gvb.3	+	1	293	c.87C>T	c.(85-87)caC>caT	p.H29H	NR5A2_uc001gvc.3_Intron|NR5A2_uc009wzh.3_5'UTR|NR5A2_uc010pph.2_5'Flank|NR5A2_uc009wzg.1_Non-coding_Transcript	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	29					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CGGACCGACACGGATCCCCCA	0.647000														135			29		0	0	0.012213	0	0
TAF1L	138474	broad.mit.edu	37	9	32631678	32631678	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:32631678G>A	uc003zrg.1	-	0	3990	c.3900C>T	c.(3898-3900)ctC>ctT	p.L1300L	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1300					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTGATAATAGAGGGGGCAGA	0.433000														98			74		0	0	0.014410	0	0
PRPF40B	25766	broad.mit.edu	37	12	50037688	50037688	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:50037688G>A	uc001rur.1	+	23	2487	c.2424G>A	c.(2422-2424)aaG>aaA	p.K808K	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001ruq.1_Silent_p.K795K|PRPF40B_uc001rus.1_Silent_p.K750K|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	808					RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGCTGGCAAGGAGAGCGATG	0.542000														34			10		0	0	0.006214	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565342	48565342	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:48565342G>A	uc010xzd.2	-	13	1537	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	PLA2G4C_uc002phw.3_Silent_p.I325I|PLA2G4C_uc010elr.3_Silent_p.I390I|PLA2G4C_uc002phx.3_Silent_p.I390I	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	390	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGGGAGTGTTGATGGCTAAAC	0.582000														40			26		0	0	0.006320	0	0
OR9A2	135924	broad.mit.edu	37	7	142723947	142723947	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:142723947C>T	uc003wcc.1	-	0	273	c.273G>A	c.(271-273)caG>caA	p.Q91Q		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q91*(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAGAAAGATACTGTCTGCATC	0.483000														25			20		0	0	0.008871	0	0
ZNF18	7566	broad.mit.edu	37	17	11881676	11881676	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:11881676G>A	uc002gng.1	-	8	1853	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	ZNF18_uc002gnh.1_Silent_p.T416T|ZNF18_uc002gni.1_Silent_p.T415T	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	416					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCCTATAAAAGGTCTTCCCAC	0.522000														66			42		0	0	0.013114	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793025	21793025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21793025G>A	uc001wag.3	+	13	2011	c.2011G>A	c.(2011-2013)Ggg>Agg	p.G671R	RPGRIP1_uc001wah.3_Missense_Mutation_p.G313R|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.G136R|RPGRIP1_uc001wak.3_Missense_Mutation_p.G146R|RPGRIP1_uc010aim.3_Missense_Mutation_p.G54R|RPGRIP1_uc001wal.3_Intron|RPGRIP1_uc001wam.3_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	671					response to stimulus|visual perception	cilium		p.G287W(1)|p.G671W(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATTATCTGTGGGGCCACAGCC	0.507000														101			68		0	0	0.014410	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147674960	147674960	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:147674960G>A	uc003weu.2	+	14	2778	c.2262G>A	c.(2260-2262)aaG>aaA	p.K754K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	754	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGGAGGAAGGATGCTGGTT	0.443000										HNSCC(39;0.1)				38			18		0	0	0.012319	0	0
MYO3A	53904	broad.mit.edu	37	10	26465656	26465656	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:26465656C>T	uc001isn.2	+	30	4680	c.4320C>T	c.(4318-4320)ttC>ttT	p.F1440F	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1440					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGAATATTTCATTCTGCAGA	0.383000														12			8		0	0	0.003080	0	0
C3orf24	115795	broad.mit.edu	37	3	10146260	10146260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:10146260C>T	uc003buz.3	-	1	424	c.199G>A	c.(199-201)Gga>Aga	p.G67R	C3orf24_uc003bva.2_Missense_Mutation_p.G67R|C3orf24_uc021wsy.1_Missense_Mutation_p.G67R	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA.	67										endometrium(1)|large_intestine(2)|lung(3)	6				OV - Ovarian serous cystadenocarcinoma(96;0.196)		GGACTCACTCCAGATTCCAGG	0.562000														22			17		0	0	0.004990	0	0
SH3D19	152503	broad.mit.edu	37	4	152069112	152069112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:152069112G>A	uc010ipl.1	-	10	2294	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	SH3D19_uc003imb.2_Missense_Mutation_p.R180C|SH3D19_uc003imc.2_Missense_Mutation_p.R366C|SH3D19_uc003ime.2_Missense_Mutation_p.R402C|SH3D19_uc010ipm.2_Missense_Mutation_p.R402C	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	402					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGTTTGGGACGAGGGGGTAGC	0.388000														30			24		0	0	0.004656	0	0
GDF10	2662	broad.mit.edu	37	10	48428785	48428785	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:48428785C>T	uc001jfb.3	-	1	1529	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	GDF10_uc009xnp.3_Silent_p.R366R|GDF10_uc009xnq.2_Silent_p.R367R	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	367					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCCACTGCTTCCTCCGGGCTT	0.582000														27			21		0	0	0.002780	0	0
NALCN	259232	broad.mit.edu	37	13	101712206	101712206	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:101712206C>T	uc001vox.1	-	41	5058	c.4869G>A	c.(4867-4869)acG>acA	p.T1623T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1623						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTGGCATTCGTGTCCTCAC	0.542000														47			27		0	0	0.006320	0	0
SORT1	6272	broad.mit.edu	37	1	109888410	109888410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:109888410C>T	uc001dxm.2	-	7	975	c.926G>A	c.(925-927)gGg>gAg	p.G309E	SORT1_uc010ovi.2_Missense_Mutation_p.G172E|SORT1_uc009wfb.2_Missense_Mutation_p.G173E	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	309					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GAAACGTCCCCCAAGACCAAA	0.428000														219			154		0	0	0.014410	0	0
TTC18	118491	broad.mit.edu	37	10	75051077	75051077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:75051077C>T	uc009xrc.3	-	19	2477	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N	TTC18_uc001jty.3_Missense_Mutation_p.D786N|TTC18_uc001jtv.4_Intron|TTC18_uc001jtw.4_Intron|TTC18_uc001jtx.3_Missense_Mutation_p.D167N	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	786							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCCTCAGTGTCTTCTACACCA	0.478000														69			41		0	0	0.013114	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190091	58190091	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:58190091A>C	uc002qpu.3	+	4	1817	c.1120A>C	c.(1120-1122)Aaa>Caa	p.K374Q		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	374					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGCATGTGTAAAAAGTCCTT	0.453000														82			49		0	0	0.014410	0	0
SHPK	23729	broad.mit.edu	37	17	3524682	3524682	+	Silent	SNP	G	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:3524682G>C	uc002fvz.1	-	4	775	c.672C>G	c.(670-672)gtC>gtG	p.V224V		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	224					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GGAGCAGGTGGACAGGAAAAC	0.557000														31			22		0	0	0.002780	0	0
TIE1	7075	broad.mit.edu	37	1	43779533	43779533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:43779533C>T	uc001ciu.3	+	13	2480	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F	TIE1_uc010oke.2_Missense_Mutation_p.S723F|TIE1_uc009vwq.3_Missense_Mutation_p.S724F|TIE1_uc010okf.1_Missense_Mutation_p.S413F|TIE1_uc010okg.2_Missense_Mutation_p.S413F	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	768					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGGTGGGCTCCGTGTCTGCC	0.632000														23			14		0	0	0.002450	0	0
HSF5	124535	broad.mit.edu	37	17	56540296	56540296	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:56540296G>A	uc002iwi.1	-	3	1513	c.1389C>T	c.(1387-1389)acC>acT	p.T463T		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	463						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGTGGATGGTATAGATGT	0.448000														71			86		0	0	0.014410	0	0
COL6A2	1292	broad.mit.edu	37	21	47545378	47545378	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:47545378G>A	uc002zia.1	+	25	1899	c.1817_splice	c.e25-1	p.D606_splice	COL6A2_uc002zhz.1_Splice_Site_p.D606_splice|COL6A2_uc002zhy.1_Splice_Site_p.D606_splice	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	606	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CACCCCCCCAGACTGTGAGAA	0.617000														33			22		0	0	0.012319	0	0
PRSS53	339105	broad.mit.edu	37	16	31095588	31095588	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:31095588G>A	uc002eaq.3	-	9	1494	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	PRSS53_uc002ear.3_Silent_p.F292F	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	498	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						AAGCATCTCCGAAGCTGTGCA	0.647000														13			14		0	0	0.004990	0	0
PPP1R36	145376	broad.mit.edu	37	14	65053938	65053938	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:65053938G>A	uc001xhl.1	+	9	834	c.738G>A	c.(736-738)gtG>gtA	p.V246V	PPP1R36_uc001xhm.1_5'UTR	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	246																	GTACATATGTGGCTTGGATTG	0.403000														14			11		0	0	0.010729	0	0
AK311167	0	broad.mit.edu	37	9	69067873	69067873	+	RNA	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:69067873A>C	uc010mnq.2	+	1		c.471A>C								Homo sapiens cDNA, FLJ18209.																		aagaagaaaaagagcaaagat	0.284000														30			6		0	0	0.003080	0	0
AIM1L	55057	broad.mit.edu	37	1	26672304	26672304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:26672304G>A	uc001bmd.4	-	1	995	c.845C>T	c.(844-846)aCa>aTa	p.T282I		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 6.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		AAGCTCTGCTGTCCCGGTCTC	0.652000														10			7		0	0	0.001984	0	0
ICOSLG	23308	broad.mit.edu	37	21	45655426	45655426	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:45655426G>A	uc010gpp.1	-	3	560	c.426C>T	c.(424-426)gtC>gtT	p.V142V	ICOSLG_uc002zef.3_Silent_p.V25V|ICOSLG_uc002zee.3_Silent_p.V142V|ICOSLG_uc011afc.2_Silent_p.V52V	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	142	Ig-like C2-type.				B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGGCGCTGACGACGGGCACGC	0.587000														59			34		0	0	0.005524	0	0
FAT3	120114	broad.mit.edu	37	11	92532383	92532383	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:92532383G>A	uc001pdj.4	+	8	6221	c.6204G>A	c.(6202-6204)gtG>gtA	p.V2068V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2068	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGCCAGAGTGGTGGTCAGGG	0.517000										TCGA Ovarian(4;0.039)				86			228		0	0	0.014410	0	0
COL8A1	1295	broad.mit.edu	37	3	99513517	99513517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:99513517G>A	uc003dti.1	+	2	903	c.775G>A	c.(775-777)Ggg>Agg	p.G259R	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G258R|COL8A1_uc003dth.1_Missense_Mutation_p.G258R	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	258	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGGGCCTCCAGGGATGCACGG	0.662000														68			40		0	0	0.009718	0	0
MEP1A	4224	broad.mit.edu	37	6	46801057	46801057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:46801057G>A	uc011dwh.1	+	9	1483	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E	MEP1A_uc010jzh.1_Missense_Mutation_p.G464E|MEP1A_uc011dwg.1_Missense_Mutation_p.G186E|MEP1A_uc011dwi.1_Missense_Mutation_p.G364E	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	464	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.G491A(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AATTCGGAGGGATATGGTTTT	0.493000														66			36		0	0	0.003271	0	0
C19orf75	284369	broad.mit.edu	37	19	51768691	51768691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:51768691G>A	uc002pwb.1	+	2	473	c.92G>A	c.(91-93)gGg>gAg	p.G31E	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	31						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TCCTTCCATGGGATTCCCACA	0.587000														41			28		0	0	0.007291	0	0
ASB2	51676	broad.mit.edu	37	14	94419799	94419799	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:94419799A>G	uc001ycd.3	-	4	903	c.533T>C	c.(532-534)tTg>tCg	p.L178S	ASB2_uc001ycc.2_Missense_Mutation_p.L130S|ASB2_uc001yce.1_Missense_Mutation_p.L76S	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	130					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCACGTTGCCAAGTAAACGGC	0.582000														34			19		0	0	0.007413	0	0
C15orf42	90381	broad.mit.edu	37	15	90167479	90167479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:90167479C>T	uc002boe.3	+	19	3938	c.3938C>T	c.(3937-3939)aCc>aTc	p.T1313I	C15orf42_uc021sug.1_Missense_Mutation_p.T1312I	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1313	Pro-rich.				DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	p.T1313S(1)		NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AAACTGTTTACCTCTCCTTTA	0.433000														71			41		0	0	0.014410	0	0
CSTF3	1479	broad.mit.edu	37	11	33123756	33123756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:33123756G>A	uc001muh.3	-	9	959	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	265					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding	p.R265R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TCCTCTGTACGAAGAGGGTTG	0.438000														38			27		0	0	0.010818	0	0
A2ML1	144568	broad.mit.edu	37	12	8993994	8993995	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:8993994_8993995CC>TT	uc001quz.4	+	10	1208_1209	c.1110_1111CC>TT	c.(1108-1113)ttcctc>ttTTtc	p.L371F	A2ML1_uc001qva.1_5'Flank	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	215						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATGACTCCTTCCTCAAGAACCA	0.416000														41			30		0	0	0.004672	0	0
DENND3	22898	broad.mit.edu	37	8	142202455	142202455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:142202455G>A	uc003yvy.3	+	20	3443	c.3165G>A	c.(3163-3165)atG>atA	p.M1055I	DENND3_uc010mep.3_Missense_Mutation_p.M1016I|DENND3_uc003ywa.1_Missense_Mutation_p.M105I|DENND3_uc003ywb.3_Missense_Mutation_p.M105I	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	1055										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATGGTCATGAAAATGAATG	0.522000														39			20		0	0	0.010504	0	0
ABCC3	8714	broad.mit.edu	37	17	48733283	48733283	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:48733283T>G	uc002isl.3	+	1	216	c.136T>G	c.(136-138)Tgg>Ggg	p.W46G	ABCC3_uc002isk.4_Missense_Mutation_p.W46G	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	46					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CATCTACCTGTGGGTCGCCCT	0.602000														72			36		0	0	0.005524	0	0
PLXND1	23129	broad.mit.edu	37	3	129284830	129284830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:129284830C>T	uc003emx.2	-	23	4322	c.4222G>A	c.(4222-4224)Gag>Aag	p.E1408K	PLXND1_uc011blb.1_Missense_Mutation_p.E76K|U7_uc021xdx.1_5'Flank	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1408					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTAATTCCCTCTTCCATGTTG	0.567000														24			9		0	0	0.006214	0	0
PTX4	390667	broad.mit.edu	37	16	1537384	1537384	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:1537384C>T	uc010uvf.2	-	1	714	c.714G>A	c.(712-714)cgG>cgA	p.R238R		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	243						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CACTGAGTACCCGATGGCTGC	0.682000														25			15		0	0	0.004007	0	0
PRLR	5618	broad.mit.edu	37	5	35066046	35066046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:35066046C>T	uc003jjm.3	-	9	1573	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.M237I|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	338					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGTGGGTTTCATACCTTGAC	0.493000														44			29		0	0	0.010818	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29906770	29906770	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:29906770C>T	uc010vec.2	-	4	908	c.663G>A	c.(661-663)ctG>ctA	p.L221L	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.L151L|SEZ6L2_uc002dur.4_Silent_p.L151L|SEZ6L2_uc002duq.4_Silent_p.L221L|SEZ6L2_uc010ved.2_Silent_p.L177L|SEZ6L2_uc002dus.4_Intron	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	221	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGACAGGTTCAGCGTCTGCA	0.612000														22			25		0	0	0.003954	0	0
CARKD	55739	broad.mit.edu	37	13	111287046	111287046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:111287046C>T	uc001vrc.3	+	6	665	c.574C>T	c.(574-576)Ccg>Tcg	p.P192S	CARKD_uc010tji.2_3'UTR|CARKD_uc010tjj.2_Missense_Mutation_p.P174S|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Non-coding_Transcript|CARKD_uc010tjk.2_Missense_Mutation_p.P82S|CARKD_uc010tjl.2_Missense_Mutation_p.P61S|CARKD_uc001vrb.3_Missense_Mutation_p.P192S|CARKD_uc021rmn.1_5'UTR	NM_018210	NP_060680	Q8IW45	CARKD_HUMAN	Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA.	192	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CGCTCAGCAGCCGGCCCTCAT	0.617000														20			14		0	0	0.002450	0	0
NTNG1	22854	broad.mit.edu	37	1	107950325	107950325	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:107950325T>G	uc001dvh.4	+	4	1800	c.1082T>G	c.(1081-1083)aTt>aGt	p.I361S	NTNG1_uc001dvc.4_Missense_Mutation_p.I361S|NTNG1_uc010out.2_Missense_Mutation_p.I361S|NTNG1_uc001dvf.4_Missense_Mutation_p.I361S|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_Intron|NTNG1_uc001dvd.1_Missense_Mutation_p.I361S	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	361					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTTCCAGTATTGGTAGTAAG	0.318000														14			15		0	0	0.004007	0	0
FAM179A	165186	broad.mit.edu	37	2	29240077	29240077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:29240077G>A	uc010ezl.3	+	8	1453	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	FAM179A_uc010ymm.2_Missense_Mutation_p.E368K|FAM179A_uc002rmr.4_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	368							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCAGATGAAGGAGATGGAGCT	0.557000														44			42		0	0	0.010771	0	0
OR52E6	390078	broad.mit.edu	37	11	5862771	5862771	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:5862771G>A	uc010qzq.2	-	0	357	c.357C>T	c.(355-357)gcC>gcT	p.A119A	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGGCCATGGCCACCAATA	0.448000														100			74		0	0	0.014410	0	0
DOCK5	80005	broad.mit.edu	37	8	26196487	26196487	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:26196487T>C	uc003xeu.3	+	2	493	c.164T>C	c.(163-165)tTt>tCt	p.F55S	DOCK5_uc003xek.3_Intron|DOCK5_uc011laf.2_Missense_Mutation_p.F65S	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	0	SH3.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTGTCATCTTTCAACAGGAG	0.353000														70			59		0	0	0.014410	0	0
DSG4	147409	broad.mit.edu	37	18	28993511	28993511	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:28993511C>T	uc002kwr.2	+	14	3268	c.3133C>T	c.(3133-3135)Cga>Tga	p.R1045*	DSG4_uc002kwq.2_Nonsense_Mutation_p.R1026*	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	1026					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATGACATCTCGACACAGAGT	0.438000														53			29		0	0	0.008361	0	0
OBSCN	84033	broad.mit.edu	37	1	228559597	228559597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:228559597G>A	uc009xez.1	+	93	21162	c.21118G>A	c.(21118-21120)Ggt>Agt	p.G7040S	OBSCN_uc001hsr.1_Missense_Mutation_p.G1669S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7040	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCAAGCAGGGTTCTGCCCC	0.672000														36			11		0	0	0.008291	0	0
LTBP2	4053	broad.mit.edu	37	14	74988709	74988709	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:74988709C>T	uc001xqa.3	-	16	3080	c.2693G>A	c.(2692-2694)gGa>gAa	p.G898E		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	898	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGCCCTTTTCCCTTGCAGGG	0.617000														12			9		0	0	0.004482	0	0
CYLC1	1538	broad.mit.edu	37	X	83129179	83129179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:83129179C>T	uc004eei.1	+	3	1484	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	CYLC1_uc004eeh.1_Missense_Mutation_p.S487F	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	488					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAATGGAATCTGATTTGGAG	0.343000														1			8		0	0	0.003080	0	0
ATP13A3	79572	broad.mit.edu	37	3	194170952	194170952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:194170952G>A	uc003fty.4	-	9	1294	c.892C>T	c.(892-894)Cca>Tca	p.P298S	ATP13A3_uc003ftz.1_Missense_Mutation_p.P4S	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	298					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCATTTAATGGAATGACCATG	0.338000														15			4		0	0	0.000602	0	0
LCT	3938	broad.mit.edu	37	2	136561681	136561681	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:136561681C>G	uc002tuu.1	-	10	4493	c.4482G>C	c.(4480-4482)tgG>tgC	p.W1494C		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1494	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGGTAGGTCCCAGTGGTAAA	0.532000														30			18		0	0	0.006122	0	0
OR4D10	390197	broad.mit.edu	37	11	59245249	59245249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:59245249C>T	uc001nnz.1	+	0	347	c.347C>T	c.(346-348)tCg>tTg	p.S116L		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S114L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTCTCTTTCGGTGATGGCA	0.478000														39			33		0	0	0.010818	0	0
HRG	3273	broad.mit.edu	37	3	186390584	186390584	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:186390584G>A	uc003fqq.3	+	4	590	c.567G>A	c.(565-567)ggG>ggA	p.G189G		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	189	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AGAGAGGAGGGGAAGGAACTG	0.413000														19			20		0	0	0.010504	0	0
FAM193A	8603	broad.mit.edu	37	4	2691333	2691333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:2691333C>T	uc010ick.3	+	12	2160	c.2159C>T	c.(2158-2160)cCa>cTa	p.P720L	FAM193A_uc003gfd.3_Missense_Mutation_p.P520L|FAM193A_uc011bvm.2_Missense_Mutation_p.P542L|FAM193A_uc011bvn.2_Missense_Mutation_p.P520L|FAM193A_uc010icl.3_Missense_Mutation_p.P520L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.P374L	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	520										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGGAATACTCCAGAGTGGAAT	0.398000														36			28		0	0	0.007291	0	0
XKR4	114786	broad.mit.edu	37	8	56015094	56015094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:56015094G>A	uc003xsf.3	+	0	78	c.46G>A	c.(46-48)Gac>Aac	p.D16N		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	16						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GAAAAGCAGCGACGTGGCGTT	0.627000														14			14		0	0	0.002450	0	0
OR5J2	282775	broad.mit.edu	37	11	55944228	55944228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:55944228G>A	uc010rjb.2	+	0	135	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATCTGGGCATGATCCTCTTAA	0.418000														78			69		0	0	0.014410	0	0
KLHL24	54800	broad.mit.edu	37	3	183381313	183381313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:183381313C>T	uc003flv.3	+	3	1283	c.988C>T	c.(988-990)Cca>Tca	p.P330S	KLHL24_uc003flw.3_Missense_Mutation_p.P330S|KLHL24_uc003flx.3_Missense_Mutation_p.P330S	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	330						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ATTTAATCTTCCATACACTGA	0.398000														41			24		0	0	0.009535	0	0
C10orf129	142827	broad.mit.edu	37	10	96970436	96970436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:96970436G>A	uc001kke.3	+	4	766	c.641G>A	c.(640-642)aGg>aAg	p.R214K	C10orf129_uc009xuu.1_Missense_Mutation_p.R124K	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	214					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		ACCTACATGAGGACCAAAAGC	0.478000														29			25		0	0	0.005443	0	0
NAA40	79829	broad.mit.edu	37	11	63721833	63721833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:63721833C>T	uc009yoz.3	+	7	723	c.596C>T	c.(595-597)cCc>cTc	p.P199L	NAA40_uc010rmw.2_Missense_Mutation_p.P159L|NAA40_uc010rmx.2_Missense_Mutation_p.P178L|NAA40_uc010rmy.2_Non-coding_Transcript	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.	199	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GACTCTTCCCCCAGCATGTCC	0.582000														24			12		0	0	0.013537	0	0
EPPK1	83481	broad.mit.edu	37	8	144945250	144945250	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:144945250G>A	uc003zaa.1	-	0	2185	c.2172C>T	c.(2170-2172)atC>atT	p.I724I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	724						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCCGTGGCGATCTGGGCCT	0.662000														60			28		0	0	0.004656	0	0
GRM3	2913	broad.mit.edu	37	7	86468384	86468384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:86468384G>A	uc003uid.3	+	3	2653	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.M390I|GRM3_uc010leh.3_Missense_Mutation_p.M110I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	518					synaptic transmission	integral to plasma membrane		p.M518I(2)|p.E517K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAATGAAATGAAGAATATGC	0.522000														50			30		0	0	0.007291	0	0
ZNF71	58491	broad.mit.edu	37	19	57134054	57134054	+	Nonsense_Mutation	SNP	C	T	T	rs145277321	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:57134054C>T	uc002qnm.4	+	2	1637	c.1399C>T	c.(1399-1401)Cga>Tga	p.R467*	ZNF71_uc021vcg.1_Nonsense_Mutation_p.R467*	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	467						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R467Q(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAAGCCCTACCGATGCGGCGA	0.647000														41			15		0	0	0.004007	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47365968	47365968	+	RNA	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:47365968G>A	uc001cqo.1	-	0		c.180C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GGGGGTGCAGGAAACAGGTGC	0.488000														31			13		0	0	0.006122	0	0
KEL	3792	broad.mit.edu	37	7	142655421	142655421	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:142655421C>T	uc003wcb.3	-	4	705	c.495G>A	c.(493-495)ggG>ggA	p.G165G		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	165					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGGACCAGTCCCTGCAGCTT	0.488000														82			32		0	0	0.012213	0	0
MYO16	23026	broad.mit.edu	37	13	109817354	109817354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:109817354C>T	uc010agk.2	+	32	5892	c.5270C>T	c.(5269-5271)tCt>tTt	p.S1757F	MYO16_uc001vqt.1_Missense_Mutation_p.S1735F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1735					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTCAGTTATCTAATTCACTA	0.348000														17			21		0	0	0.014323	0	0
PTPRG	5793	broad.mit.edu	37	3	62177286	62177286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:62177286G>A	uc003dlb.3	+	8	1896	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	PTPRG_uc003dlc.3_Missense_Mutation_p.E393K	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	393	Fibronectin type-III.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GAATGAGGACGAGAAGGAGAA	0.542000														26			19		0	0	0.012319	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48897029	48897029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:48897029G>A	uc002rwp.2	+	8	3373	c.3259G>A	c.(3259-3261)Gta>Ata	p.V1087I	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.V1087I|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.V1040I|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.V383I|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.V349I	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1040					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATCTGAAGGTACCTGAAGA	0.403000														36			26		0	0	0.006320	0	0
SYT9	143425	broad.mit.edu	37	11	7439255	7439255	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:7439255G>A	uc001mfe.3	+	4	1470	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	411	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CATCCACCAAGAGGAACACCT	0.468000														31			39		0	0	0.006230	0	0
SOAT2	8435	broad.mit.edu	37	12	53512693	53512693	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:53512693A>T	uc001sbv.3	+	8	971	c.883A>T	c.(883-885)Aat>Tat	p.N295Y	SOAT2_uc009zms.3_Intron	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	295					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TGTCAGGTGGAATTATGTGGC	0.547000														51			29		0	0	0.005524	0	0
AK302306	0	broad.mit.edu	37	15	28600011	28600011	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:28600011G>A	uc010uaf.1	-	3	249	c.231C>T	c.(229-231)gcC>gcT	p.A77A	DQ595648_uc021sgj.1_5'Flank					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																		TTTGAACCTGGGCCTTTGGGA	0.483000														85			16		0	0	0.004990	0	0
MYH10	4628	broad.mit.edu	37	17	8508201	8508201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:8508201C>T	uc002glm.3	-	2	541	c.445G>A	c.(445-447)Gag>Aag	p.E149K	MYH10_uc002gll.3_Missense_Mutation_p.E149K|MYH10_uc010cnx.3_Missense_Mutation_p.E149K	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	149	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGAGGCATCTCATGACGCTTC	0.348000														46			30		0	0	0.003271	0	0
USP18	11274	broad.mit.edu	37	22	18644647	18644647	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:18644647G>A	uc002zny.3	+	3	683	c.345G>A	c.(343-345)caG>caA	p.Q115Q		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	Homo sapiens ubiquitin specific peptidase 18 (USP18), mRNA.	115					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						ACAGCCGGCAGAAAGCAGTGC	0.617000														23			13		0	0	0.001855	0	0
CNNM1	26507	broad.mit.edu	37	10	101122015	101122015	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:101122015G>A	uc010qpi.2	+	3	2179	c.1890G>A	c.(1888-1890)tcG>tcA	p.S630S	CNNM1_uc009xwe.3_Silent_p.S630S|CNNM1_uc001kpp.4_Silent_p.S630S|CNNM1_uc009xwf.3_Silent_p.S630S|CNNM1_uc009xwg.3_Silent_p.S30S	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	630					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TGTACCTTTCGGAGAAGATCC	0.537000														20			11		0	0	0.010729	0	0
OR10A6	390093	broad.mit.edu	37	11	7950061	7950061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:7950061G>A	uc010rbh.2	-	0	149	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGGTCTAGGGAGACGATGAC	0.463000														58			46		0	0	0.014410	0	0
PCSK9	255738	broad.mit.edu	37	1	55518359	55518359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:55518359G>A	uc001cyf.2	+	4	1056	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	232	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCACCTGGCAGGGGTGGTCAG	0.637000														176			119		0	0	0.014410	0	0
ZNF768	79724	broad.mit.edu	37	16	30536220	30536220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:30536220G>A	uc002dyk.4	-	1	1417	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	ZNF768_uc010vex.2_Missense_Mutation_p.S383L|ZNF768_uc010vew.2_Missense_Mutation_p.S383L	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	414					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	p.R413W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GATAAGGGCCGACCGCTGGGA	0.652000														23			12		0	0	0.002450	0	0
FAM75E1	286234	broad.mit.edu	37	9	90497933	90497933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:90497933G>A	uc004app.4	+	0	162	c.127G>A	c.(127-129)Gag>Aag	p.E43K	FAM75E1_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	43						integral to membrane											ACTTCAGATGGAGAAAATGCT	0.567000														19			14		0	0	0.003163	0	0
DBC1	1620	broad.mit.edu	37	9	121930329	121930329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:121930329C>T	uc004bkc.2	-	7	1775	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	440					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTTGGCCAGGCTGCACATGGC	0.652000														11			4		0	0	0.009096	0	0
RYR3	6263	broad.mit.edu	37	15	34130072	34130072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:34130072C>T	uc001zhi.3	+	88	11961	c.11891C>T	c.(11890-11892)tCg>tTg	p.S3964L	RYR3_uc010bar.3_Missense_Mutation_p.S3959L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3964					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTCTCCTGTCGTGTGCAGAA	0.428000														59			42		0	0	0.011902	0	0
OR11L1	391189	broad.mit.edu	37	1	248004539	248004539	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:248004539G>A	uc001idn.1	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGACACAATGAAAACATAGG	0.488000														79			21		0	0	0.010504	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509639	125509639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:125509639C>T	uc001uha.1	+	2	562	c.419C>T	c.(418-420)tCc>tTc	p.S140F	DL490908_uc021rgk.1_5'Flank	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	Homo sapiens BRI3 binding protein (BRI3BP), mRNA.	140						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TGGTTCTTGTCCCTGACCCTG	0.627000														39			29		0	0	0.008361	0	0
MXRA5	25878	broad.mit.edu	37	X	3239399	3239399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:3239399G>A	uc004crg.4	-	4	4484	c.4327C>T	c.(4327-4329)Ctc>Ttc	p.L1443F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1443						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGCTTGAGAGAGTTGTGGAA	0.448000														5			20		0	0	0.008871	0	0
AIRE	326	broad.mit.edu	37	21	45711083	45711083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:45711083G>A	uc002zei.2	+	7	1112	c.985G>A	c.(985-987)Gag>Aag	p.E329K	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Missense_Mutation_p.E132K|AIRE_uc010gpr.2_Missense_Mutation_p.E132K	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	329					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TCCGCTCCGGGAGATCCCCAG	0.697000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					15			10		0	0	0.001855	0	0
SYNJ2	8871	broad.mit.edu	37	6	158497676	158497676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:158497676G>A	uc003qqx.2	+	16	2417	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	SYNJ2_uc003qqw.2_Missense_Mutation_p.E771K|SYNJ2_uc003qqy.2_Missense_Mutation_p.E534K|SYNJ2_uc003qqz.2_Missense_Mutation_p.E388K|SYNJ2_uc003qra.2_Missense_Mutation_p.E114K	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	771							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGACTTTCACGAAGGAGCCAT	0.463000														13			28		0	0	0.013726	0	0
FHOD1	29109	broad.mit.edu	37	16	67264052	67264052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:67264052C>T	uc002esl.3	-	19	3243	c.3131G>A	c.(3130-3132)cGg>cAg	p.R1044Q	FHOD1_uc010ced.3_Missense_Mutation_p.R851Q	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	1044					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGCATCTCCCCGGCCTGGCCC	0.597000														63			29		0	0	0.009535	0	0
ZNF615	284370	broad.mit.edu	37	19	52496182	52496182	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:52496182G>T	uc002pyf.2	-	6	2497	c.2180C>A	c.(2179-2181)gCt>gAt	p.A727D	AK128361_uc021uys.1_Missense_Mutation_p.L90I|ZNF615_uc002pye.2_Missense_Mutation_p.A716D|ZNF615_uc002pyh.2_Missense_Mutation_p.A727D|ZNF615_uc010epi.2_Missense_Mutation_p.A723D|ZNF615_uc002pyg.2_Missense_Mutation_p.A608D|ZNF615_uc010ydg.2_Missense_Mutation_p.A721D	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	716			R -> K (in dbSNP:rs16983353).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R727K(1)|p.A727G(1)|p.A716G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTGCGCAAAAGCTTTCCCACA	0.438000														102			87		5.02053e-37	5.37042e-37	0.014410	1	0
ADAMTS6	11174	broad.mit.edu	37	5	64468685	64468685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:64468685G>A	uc003jtp.3	-	22	3875	c.3061C>T	c.(3061-3063)Cgc>Tgc	p.R1021C	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	1021	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R192C(1)|p.R1021C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGACCCAGCGAGGAGGAGGG	0.557000														46			33		0	0	0.003271	0	0
LYPD4	147719	broad.mit.edu	37	19	42341400	42341400	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:42341400G>A	uc002orp.1	-	4	1542	c.558C>T	c.(556-558)ttC>ttT	p.F186F	LYPD4_uc002orq.1_Silent_p.F151F	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	186	UPAR/Ly6.					anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CCATGAGGAGGAAGGTGGTAT	0.483000														75			42		0	0	0.013114	0	0
C12orf42	374470	broad.mit.edu	37	12	103695950	103695950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:103695950C>T	uc001tjt.2	-	5	1107	c.1019G>A	c.(1018-1020)cGg>cAg	p.R340Q	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.R340Q|C12orf42_uc001tju.2_Missense_Mutation_p.R245Q	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	340										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ATGGAAACGCCGGGTTGGGCG	0.592000														69			25		0	0	0.010818	0	0
LCE1A	353131	broad.mit.edu	37	1	152800159	152800159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:152800159C>T	uc010pdw.2	+	0	211	c.211C>T	c.(211-213)Cac>Tac	p.H71Y		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	71	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCCTGAGCCACCACAGGCG	0.692000														41			44		0	0	0.010771	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764235	92764235	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:92764235C>T	uc003umh.1	-	4	2266	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	SAMD9L_uc003umj.1_Silent_p.R350R|SAMD9L_uc003umi.1_Silent_p.R350R|SAMD9L_uc010lfb.1_Silent_p.R350R|SAMD9L_uc003umk.1_Silent_p.R350R|SAMD9L_uc010lfc.1_Silent_p.R350R|SAMD9L_uc010lfd.1_Silent_p.R350R|SAMD9L_uc022ahh.1_Silent_p.R350R	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	350								p.S349F(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCAGGATATCCCTAGAGCTAG	0.353000														78			66		0	0	0.014410	0	0
LAMP5	24141	broad.mit.edu	37	20	9496135	9496135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:9496135G>A	uc002wni.2	+	1	595	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	LAMP5_uc010zrc.2_Missense_Mutation_p.E34K	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	34						integral to membrane											ACAAGAAGTGGAAAATCTCTC	0.473000														47			28		0	0	0.006320	0	0
C2orf83	56918	broad.mit.edu	37	2	228476360	228476360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:228476360G>A	uc002vph.3	-	2	438	c.203C>T	c.(202-204)tCt>tTt	p.S68F	C2orf83_uc010zlu.2_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.	68						membrane	folic acid binding|reduced folate carrier activity	p.P67L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						TAGTTTCTCAGATGGACTTAA	0.423000														26			24		0	0	0.005443	0	0
RNF125	54941	broad.mit.edu	37	18	29625679	29625679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:29625679C>T	uc002kxf.1	+	3	870	c.488C>T	c.(487-489)tCg>tTg	p.S163L		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	Homo sapiens ring finger protein 125 (RNF125), mRNA.	163					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CATCACAGATCGGAACGGAGG	0.368000														60			31		0	0	0.004289	0	0
MUC3A	4584	broad.mit.edu	37	7	100551575	100551575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:100551575G>A	uc003uxl.1	+	0	826	c.26G>A	c.(25-27)aGa>aAa	p.R9K	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ATGACCCTCAGAATTACTGAG	0.488000														147			101		0	0	0.014410	0	0
FKBP4	2288	broad.mit.edu	37	12	2909631	2909631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:2909631C>T	uc001qkz.3	+	7	1118	c.920C>T	c.(919-921)tCc>tTc	p.S307F		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	307	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	TCTAGTTTTTCCAATGAGGAA	0.483000														18			10		0	0	0.008291	0	0
CCDC83	220047	broad.mit.edu	37	11	85606418	85606418	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:85606418G>A	uc001pbg.1	+	5	1106	c.594G>A	c.(592-594)tgG>tgA	p.W198*	CCDC83_uc001pbh.1_Nonsense_Mutation_p.W198*|CCDC83_uc001pbj.1_Nonsense_Mutation_p.W99*|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	198										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAAGGAATGGGCCACACAGG	0.294000														8			20		0	0	0.003954	0	0
MEGF8	1954	broad.mit.edu	37	19	42867222	42867222	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:42867222C>T	uc002otl.4	+	33	6515	c.5880C>T	c.(5878-5880)tcC>tcT	p.S1960S	MEGF8_uc002otm.4_Silent_p.S1568S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2027	PSI 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCATCCTCTCCGTGCAGCCCA	0.652000														14			6		0	0	0.008291	0	0
LRRC25	126364	broad.mit.edu	37	19	18507677	18507678	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:18507677_18507678CC>TT	uc002niw.3	-	0	738_739	c.96_97GG>AA	c.(94-99)gtggac>gtAAac	p.D33N	LRRC25_uc002nix.3_Missense_Mutation_p.D33N	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	33						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GCGTTCCAGTCCACATCCGCGG	0.624000														23			10		0	0	0.004672	0	0
HMCN1	83872	broad.mit.edu	37	1	186014957	186014957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:186014957C>T	uc001grq.1	+	40	6671	c.6442C>T	c.(6442-6444)Cca>Tca	p.P2148S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2148	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGAAGAAACCAGGCCTCAG	0.383000														47			12		0	0	0.013537	0	0
PMF1-BGLAP	100527963	broad.mit.edu	37	1	156203421	156203421	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:156203421G>A	uc021pbb.1	+	2	298	c.270G>A	c.(268-270)gaG>gaA	p.E90E	PMF1-BGLAP_uc009wru.2_Non-coding_Transcript|PMF1-BGLAP_uc001fnr.3_Silent_p.E90E|PMF1-BGLAP_uc001fnq.3_Silent_p.E90E|PMF1-BGLAP_uc021pba.1_Silent_p.E92E|PMF1-BGLAP_uc021pbc.1_Silent_p.E90E|PMF1-BGLAP_uc001fns.2_Silent_p.E90E|PMF1-BGLAP_uc021pbd.1_Intron	NM_001199661	NP_001186590	Q6P1K2	PMF1_HUMAN	Homo sapiens PMF1-BGLAP readthrough (PMF1-BGLAP), transcript variant 1, mRNA.	90					cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	MIS12/MIND type complex|cytosol|transcription factor complex	leucine zipper domain binding|transcription coactivator activity										CTCTTCAGGAGGAAATCTCTG	0.443000														233			60		0	0	0.014410	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228526	228228526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:228228526C>T	uc002vpb.2	-	3	642	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA.	202						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AACAGGACCTCCAGAATTCCA	0.418000														58			41		0	0	0.009718	0	0
DVL1	1855	broad.mit.edu	37	1	1271705	1271705	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:1271705C>T	uc001aer.4	-	14	1877	c.1830G>A	c.(1828-1830)tcG>tcA	p.S610S	DVL1_uc009vka.3_Silent_p.S293S|DVL1_uc002quu.3_Silent_p.S352S|DVL1_uc001aeu.1_3'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	635					Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGCGGTAGCCGAGGCCTGAC	0.746000														12			9		0	0	0.006214	0	0
EHD1	10938	broad.mit.edu	37	11	64622297	64622297	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:64622297G>A	uc010rnq.1	-	5	1202	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	EHD1_uc021qkz.1_Silent_p.F54F|EHD1_uc001obu.1_Silent_p.F371F|EHD1_uc001obv.1_Silent_p.F371F	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	371					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TCAGCGCCTGGAACTTGCTGA	0.637000														140			122		0	0	0.014410	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599155	151599155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:151599155C>T	uc003ezf.2	+	2	929	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	275						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.S275F(2)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTCATCAACTCCTTTTACATT	0.473000														77			61		0	0	0.014410	0	0
ZNF786	136051	broad.mit.edu	37	7	148768906	148768906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:148768906G>A	uc003wfh.2	-	3	1095	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	ZNF786_uc011kuk.1_Missense_Mutation_p.R283W|ZNF786_uc003wfi.2_Missense_Mutation_p.R234W	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R319R(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCCCCTCCCGGCTGTGCTGG	0.721000														5			3		0	0	0.009096	0	0
ANXA7	310	broad.mit.edu	37	10	75143041	75143041	+	Silent	SNP	G	A	A	rs139287762	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:75143041G>A	uc001jtz.2	-	9	949	c.876C>T	c.(874-876)atC>atT	p.I292I	ANXA7_uc001jua.2_Silent_p.I270I|ANXA7_uc010qki.1_Silent_p.I180I|ANXA7_uc009xre.3_Silent_p.I199I|ANXA7_uc009xrf.1_Silent_p.I212I	NM_004034	NP_004025	P20073	ANXA7_HUMAN	Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.	292							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CAATTTCTCGGATTTCCTGAT	0.378000														23			6		0	0	0.001168	0	0
ZNF644	84146	broad.mit.edu	37	1	91382389	91382389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:91382389G>A	uc001dnw.3	-	5	4233	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L	ZNF644_uc001dnv.3_Missense_Mutation_p.S95L|ZNF644_uc001dnx.3_Missense_Mutation_p.S95L	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TAGAGAAAATGAAGTTTCTGT	0.383000														28			20		0	0	0.007413	0	0
SEC16A	9919	broad.mit.edu	37	9	139371911	139371911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:139371911C>T	uc004chx.3	-	2	466	c.157G>A	c.(157-159)Gat>Aat	p.D53N	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.D53N|SEC16A_uc010nbn.3_Missense_Mutation_p.D53N|SEC16A_uc010nbo.1_Missense_Mutation_p.D53N	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	2020					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCAAATGGATCCGTGACCGGC	0.567000														33			16		0	0	0.004007	0	0
DDX26B	203522	broad.mit.edu	37	X	134706945	134706945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:134706945G>A	uc004eyw.4	+	10	1856	c.1493G>A	c.(1492-1494)gGg>gAg	p.G498E	DDX26B_uc004eyx.4_Missense_Mutation_p.G99E	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	498										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAAATTGGGCTCTTAAAC	0.308000														4			13		0	0	0.001855	0	0
NOS3	4846	broad.mit.edu	37	7	150699372	150699372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:150699372G>A	uc003wif.3	+	13	2028	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	NOS3_uc011kuy.2_Missense_Mutation_p.D372N|NOS3_uc011kva.2_Missense_Mutation_p.D578N|NOS3_uc011kuz.2_Missense_Mutation_p.D578N|NOS3_uc011kvb.2_Missense_Mutation_p.D578N	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	578	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGGGAATGGGGATCCCCCGGA	0.562000														8			6		0	0	0.001984	0	0
SGK223	157285	broad.mit.edu	37	8	8185920	8185920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:8185920G>A	uc003wsh.4	-	3	2372	c.2372C>T	c.(2371-2373)cCc>cTc	p.P791L		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	791							ATP binding|non-membrane spanning protein tyrosine kinase activity										AAACGGAACGGGAGCAAAGAG	0.607000														17			17		0	0	0.004007	0	0
TDRKH	11022	broad.mit.edu	37	1	151755429	151755429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:151755429G>A	uc009wnb.1	-	1	252	c.70C>T	c.(70-72)Cca>Tca	p.P24S	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Missense_Mutation_p.P24S|TDRKH_uc001ezc.4_Missense_Mutation_p.P24S|TDRKH_uc001eza.4_Missense_Mutation_p.P24S|TDRKH_uc001ezd.4_Missense_Mutation_p.P24S|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	24							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCACTGGCTGGGATCCCAAGG	0.468000														134			99		0	0	0.014410	0	0
CLU	1191	broad.mit.edu	37	8	27462448	27462448	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:27462448G>A	uc003xfy.2	-	4	1002	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CLU_uc003xfw.2_Silent_p.F274F|CLU_uc003xfx.2_Silent_p.F274F|CLU_uc003xfz.2_Silent_p.F274F	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	274					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CACCTCGTATGAATTCTGTTG	0.547000														72			56		0	0	0.014410	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956442	96956442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:96956442C>T	uc002svu.3	-	18	2665	c.2533G>A	c.(2533-2535)Gga>Aga	p.G845R		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	845	Helicase C-terminal 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCAGTGCTCCCAGTTCTGTC	0.507000														79			62		0	0	0.014410	0	0
SNAP91	9892	broad.mit.edu	37	6	84303409	84303409	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:84303409A>G	uc021zcf.1	-	16	1514	c.1484T>C	c.(1483-1485)cTc>cCc	p.L495P	SNAP91_uc011dzd.2_5'UTR|SNAP91_uc003pka.3_Missense_Mutation_p.L493P|SNAP91_uc011dze.2_Missense_Mutation_p.L493P|SNAP91_uc003pkc.3_Missense_Mutation_p.L493P|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.L458P	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	495	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CATTGCAAAGAGGTCCAGCTC	0.547000														5			19		0	0	0.007413	0	0
GANC	2595	broad.mit.edu	37	15	42619583	42619583	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:42619583C>T	uc001zpi.3	+	12	1757	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	481					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ACCTGGATTTCACCAATCCCA	0.423000														91			72		0	0	0.014410	0	0
ACAN	176	broad.mit.edu	37	15	89401231	89401231	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:89401231C>T	uc010upo.1	+	11	5789	c.5415C>T	c.(5413-5415)ttC>ttT	p.F1805F	ACAN_uc010upp.1_Silent_p.F1805F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1805					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TACCAGGGTTCAGTGGGGCAA	0.512000														26			16		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179542444	179542444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179542444G>A	uc021vsy.1	-	142	30688	c.30463C>T	c.(30463-30465)Cct>Tct	p.P10155S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6816S|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11082	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCGGGAGGAACTTCCTCT	0.448000														67			49		0	0	0.014410	0	0
CCDC164	92749	broad.mit.edu	37	2	26667734	26667734	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:26667734G>A	uc002rhg.2	+	9	1388	c.1314G>A	c.(1312-1314)tgG>tgA	p.W438*	CCDC164_uc010eym.1_Non-coding_Transcript	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	438										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						ctgatttctggttcctgaaca	0.512000														26			19		0	0	0.008871	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278390	36278390	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:36278390A>G	uc002obs.2	+	20	2584	c.2440A>G	c.(2440-2442)Agt>Ggt	p.S814G	ARHGAP33_uc002obt.2_Missense_Mutation_p.S839G|ARHGAP33_uc002obv.1_Missense_Mutation_p.S563G	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	900					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AAGGCAACAAAGTGATGGGAG	0.692000														11			8		0	0	0.003080	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540495	169540495	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:169540495C>T	uc003fgb.3	+	0	786	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	262										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGACGGAAATCGGGCTGAGCG	0.607000														21			14		0	0	0.001855	0	0
CYP3A7	1551	broad.mit.edu	37	7	99270254	99270254	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:99270254C>T	uc003urq.3	-	3	369	c.267G>A	c.(265-267)gtG>gtA	p.V89V	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Silent_p.V79V|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Silent_p.V89V	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	89					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.D88N(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CTGTTCTGATCACGTCGGGAT	0.423000														98			76		0	0	0.014410	0	0
ASXL1	171023	broad.mit.edu	37	20	31024037	31024038	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:31024037_31024038GG>AA	uc021wbw.1	+	12	3954_3955	c.3522_3523GG>AA	c.(3520-3525)aaggag>aaAAag	p.E1175K	ASXL1_uc002wxs.3_Missense_Mutation_p.E1174K|ASXL1_uc010geb.3_Missense_Mutation_p.E1066K	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1175					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGCTTTGAAGGAGCCTCTTCT	0.535000			"""F, N, Mis"""		"""MDS, CMML"""									32			24		0	0	0.004672	0	0
ARVCF	421	broad.mit.edu	37	22	19965018	19965018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:19965018G>A	uc002zqz.3	-	8	2060	c.1790C>T	c.(1789-1791)cCc>cTc	p.P597L	ARVCF_uc002zqy.3_Missense_Mutation_p.P119L	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	597					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGGGGCCCGGGCTCGGCCTC	0.677000														46			30		0	0	0.009535	0	0
SIDT1	54847	broad.mit.edu	37	3	113285282	113285282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:113285282G>A	uc021xcn.1	+	1	889	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.V80M|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	80						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AGCCGTGAGGGTGTATGTGAA	0.512000														49			28		0	0	0.010818	0	0
OR13C8	138802	broad.mit.edu	37	9	107331717	107331717	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:107331717A>T	uc011lvo.2	+	0	269	c.269A>T	c.(268-270)aAa>aTa	p.K90I		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GCAGTAAAGAAAAAGGTTTCC	0.468000														88			60		0	0	0.014410	0	0
WSCD2	9671	broad.mit.edu	37	12	108589759	108589759	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:108589759G>A	uc001tms.3	+	1	894	c.150G>A	c.(148-150)gcG>gcA	p.A50A	WSCD2_uc001tmt.3_Silent_p.A50A	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	50						integral to membrane		p.A50A(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGAACCAGGCGAACCCCGCTG	0.607000														89			54		0	0	0.014410	0	0
MATN1	4146	broad.mit.edu	37	1	31194271	31194271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:31194271C>T	uc001brz.3	-	1	456	c.422G>A	c.(421-423)aGg>aAg	p.R141K	LOC100129196_uc001bsb.1_Non-coding_Transcript	NM_002379	NP_002370	P21941	MATN1_HUMAN	Homo sapiens matrilin 1, cartilage matrix protein (MATN1), mRNA.	141	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGGGGACCTGGAACGACC	0.607000														87			50		0	0	0.014410	0	0
CXXC1	30827	broad.mit.edu	37	18	47811394	47811394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:47811394C>T	uc002leq.4	-	6	1623	c.890G>A	c.(889-891)gGg>gAg	p.G297E	CXXC1_uc002lep.4_Missense_Mutation_p.G154E|CXXC1_uc002ler.4_Missense_Mutation_p.G297E|CXXC1_uc010doy.3_Missense_Mutation_p.G297E	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	297	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ATCAAAGGCCCCTGCACAGAA	0.552000														40			27		0	0	0.003954	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899720	130899720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:130899720G>A	uc010yzw.1	-	1	1580	c.836C>T	c.(835-837)tCc>tTc	p.S279F	CCDC74B_uc002tqm.1_Missense_Mutation_p.S177F|CCDC74B_uc002tqn.1_Missense_Mutation_p.S111F|CCDC74B_uc010yzx.1_3'UTR			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	177										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					ATTAGAGATGGACTTGACAGA	0.642000														25			10		0	0	0.010729	0	0
DHX34	9704	broad.mit.edu	37	19	47858389	47858389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:47858389G>A	uc010xyn.2	+	2	1148	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	DHX34_uc010elc.1_Missense_Mutation_p.E267K	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	267	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AATCCAGCGGGAACCCAGCCT	0.597000														43			31		0	0	0.010818	0	0
LIPI	149998	broad.mit.edu	37	21	15561684	15561684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:15561684C>T	uc002yjm.3	-	1	176	c.166G>A	c.(166-168)Gat>Aat	p.D56N	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.D35N|LIPI_uc021whh.1_Missense_Mutation_p.D35N|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.D35N|LIPI_uc021whe.1_Missense_Mutation_p.D35N|LIPI_uc021whf.1_Missense_Mutation_p.D35N	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	35					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.D56D(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAATCTCTGAAGGAA	0.353000														41			35		0	0	0.004289	0	0
TCN1	6947	broad.mit.edu	37	11	59629071	59629071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:59629071G>A	uc001noj.2	-	3	583	c.485C>T	c.(484-486)tCa>tTa	p.S162L		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	162					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCGGCGGTTGAGTAGTTCCC	0.443000														44			43		0	0	0.009718	0	0
FAM179A	165186	broad.mit.edu	37	2	29234362	29234362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:29234362C>T	uc010ezl.3	+	6	1223	c.872C>T	c.(871-873)tCt>tTt	p.S291F	FAM179A_uc010ymm.2_Missense_Mutation_p.S291F|FAM179A_uc002rmr.4_5'Flank	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	291							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCCCTGCATCTCTGGGTACG	0.537000														33			24		0	0	0.010818	0	0
SEC14L4	284904	broad.mit.edu	37	22	30890867	30890867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:30890867C>T	uc003aid.2	-	5	605	c.505G>A	c.(505-507)Gag>Aag	p.E169K	SEC14L4_uc011akz.1_Missense_Mutation_p.E169K|SEC14L4_uc003aie.2_Missense_Mutation_p.E154K|SEC14L4_uc003aif.2_Missense_Mutation_p.E115K	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	169	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TGGTAGACCTCCACAGCTGGC	0.582000														41			30		0	0	0.003271	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542561	21542562	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21542561_21542562CC>TT	uc001vzp.3	+	2	701_702	c.672_673CC>TT	c.(670-675)acccgg>acTTgg	p.R225W	ARHGEF40_uc001vzn.1_Missense_Mutation_p.R225W|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	225					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CGCTGGGTACCCGGAGTCCTGG	0.634000														8			7		0	0	0.004672	0	0
ABCD4	5826	broad.mit.edu	37	14	74759018	74759019	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:74759018_74759019GG>AA	uc001xpr.2	-	10	1241_1242	c.1089_1090CC>TT	c.(1087-1092)atcctg>atTTtg	p.363_364IL>IL	ABCD4_uc001xps.2_Silent_p.204_205IL>IL|ABCD4_uc010tur.2_Silent_p.259_260IL>IL|ABCD4_uc001xpu.2_Silent_p.100_101IL>IL|ABCD4_uc001xpv.2_Non-coding_Transcript	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	363						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E362*(1)		cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTCTCGCCCAGGATCTCGCAGT	0.584000														54			25		0	0	0.004672	0	0
DOCK1	1793	broad.mit.edu	37	10	128824626	128824626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:128824626C>T	uc010qun.2	+	15	1626	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	DOCK1_uc001ljt.3_Missense_Mutation_p.P500L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	500	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GTGGCCATTCCCATCGAGGAC	0.438000														3			3		0	0	0.009096	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152760	100152760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:100152760G>A	uc001kpc.3	-	8	952	c.866C>T	c.(865-867)gCc>gTc	p.A289V	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	289							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						ATCAGAGAGGGCACCCATGCC	0.597000														36			28		0	0	0.010818	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004896	52004896	+	Missense_Mutation	SNP	G	A	A	rs150618212		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:52004896G>A	uc002pwx.1	-	0	148	c.92C>T	c.(91-93)tCc>tTc	p.S31F	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	31	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACCGTCACGGACTTCTGCAT	0.572000														31			11		0	0	0.008291	0	0
KSR2	283455	broad.mit.edu	37	12	117962980	117962980	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:117962980G>A	uc001two.2	-	13	1864	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	632					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCTCCTCGAAGTCATCCT	0.597000														17			19		0	0	0.007413	0	0
MLL2	8085	broad.mit.edu	37	19	36219791	36219791	+	Splice_Site	SNP	G	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:36219791G>T	uc021usv.1	+	20	4687	c.4687_splice	c.e20+1	p.A1563_splice	MLL2_uc021usu.1_Splice_Site_p.A377_splice	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	762					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCCTCAGCAGGTACTGGGAAG	0.602000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				21			16		4.7546e-09	5.04508e-09	0.004007	1	0
RBM27	54439	broad.mit.edu	37	5	145643114	145643114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:145643114C>T	uc003lnz.4	+	13	2417	c.2251C>T	c.(2251-2253)Cgt>Tgt	p.R751C	RBM27_uc003lny.2_Missense_Mutation_p.R696C	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	751					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTAAACATCGTCTTGGACA	0.418000														54			35		0	0	0.004878	0	0
UTRN	7402	broad.mit.edu	37	6	144801043	144801043	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:144801043C>T	uc003qkt.3	+	24	3524	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A	UTRN_uc010khq.1_Silent_p.A1144A	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1144					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGACCCAGGCCGAGGAAGAAT	0.483000														15			25		0	0	0.004656	0	0
MAPK10	5602	broad.mit.edu	37	4	86950413	86950413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:86950413C>T	uc003hps.3	-	12	1875	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	MAPK10_uc010ikg.3_Missense_Mutation_p.E359K|MAPK10_uc003hpr.3_Missense_Mutation_p.E359K|MAPK10_uc003hpt.3_Missense_Mutation_p.E397K|MAPK10_uc003hpu.3_Missense_Mutation_p.E397K|MAPK10_uc003hpv.3_Missense_Mutation_p.E252K|MAPK10_uc003hpn.3_Missense_Mutation_p.E145K|MAPK10_uc011ccw.2_Missense_Mutation_p.E283K|MAPK10_uc003hpo.3_Missense_Mutation_p.E252K|MAPK10_uc003hpp.3_Missense_Mutation_p.E252K	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	397					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TTCATTACTTCCTTGTAGATA	0.333000														17			17		0	0	0.008871	0	0
FAM123C	205147	broad.mit.edu	37	2	131521567	131521567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:131521567C>T	uc021voy.1	+	0	1922	c.1922C>T	c.(1921-1923)tCc>tTc	p.S641F	FAM123C_uc002trw.2_Missense_Mutation_p.S641F|FAM123C_uc010fmv.2_Missense_Mutation_p.S641F|FAM123C_uc010fms.1_Missense_Mutation_p.S641F|FAM123C_uc010fmt.1_Missense_Mutation_p.S641F|FAM123C_uc010fmu.1_Missense_Mutation_p.S641F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	641								p.S641S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TGGCCCTGCTCCCAGAAGGAG	0.592000														12			15		0	0	0.002450	0	0
FAM69B	138311	broad.mit.edu	37	9	139616459	139616459	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:139616459C>T	uc004cik.3	+	2	379	c.285C>T	c.(283-285)ctC>ctT	p.L95L	FAM69B_uc004cil.3_Silent_p.L8L|SNHG7_uc004cim.2_Non-coding_Transcript	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	Homo sapiens family with sequence similarity 69, member B (FAM69B), mRNA.	95						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GGACCTGCCTCTCGGTGGCCC	0.657000														26			17		0	0	0.004007	0	0
GP1BA	2811	broad.mit.edu	37	17	4836950	4836950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:4836950G>A	uc021tnz.1	+	1	1126	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Missense_Mutation_p.E351K	NM_000173	NP_000164	E7ES66	E7ES66_HUMAN	Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA.	351										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						ATCCACTAAGGAGCAGACCAC	0.488000														85			90		0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13766106	13766106	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:13766106C>T	uc003jfd.2	-	58	10122	c.10080G>A	c.(10078-10080)ggG>ggA	p.G3360G	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3360	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTAAAAAGTTCCCTGCAGTCA	0.428000									Kartagener syndrome					65			40		0	0	0.009718	0	0
NF1	4763	broad.mit.edu	37	17	29654857	29654858	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:29654857_29654858GG>AA	uc002hgg.3	+	38	5992	c.5609_splice	c.e38+1	p.R1870_splice	NF1_uc002hgh.3_Splice_Site_p.R1849_splice|NF1_uc002hgi.1_Splice_Site_p.R882_splice|NF1_uc010cso.3_Splice_Site_p.R58_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1870					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.S1871fs*13(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGAGTTTACGGTAGGTTTTTT	0.376000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				35			19		0	0	0.004672	0	0
KLHL1	57626	broad.mit.edu	37	13	70281842	70281842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:70281842C>T	uc001vip.3	-	9	2896	c.2102G>A	c.(2101-2103)aGa>aAa	p.R701K	KLHL1_uc010thm.2_Missense_Mutation_p.R640K	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	701					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCATATAATCTGTCACCAAG	0.438000														26			19		0	0	0.006122	0	0
ZNF578	147660	broad.mit.edu	37	19	53013881	53013881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:53013881G>A	uc002pzp.4	+	5	491	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGGCAATACAGAAGTGATCCA	0.378000														95			64		0	0	0.014410	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736281	12736281	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:12736281G>A	uc004cuz.2	+	15	3842	c.3336G>A	c.(3334-3336)ggG>ggA	p.G1112G	FRMPD4_uc011mij.2_Silent_p.G1104G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1112					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAGCAACAGGGAAAACCTTTC	0.507000														11			71		0	0	0.014410	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433254	72433255	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:72433254_72433255GG>AA	uc004ebi.3	-	0	1456_1457	c.1074_1075CC>TT	c.(1072-1077)atccga>atTTga	p.R359*		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	359					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTTACAGTTCGGATTGTTCCCC	0.371000														7			27		0	0	0.004672	0	0
SDK1	221935	broad.mit.edu	37	7	4153058	4153059	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:4153058_4153059GG>AA	uc003smx.3	+	23	3711_3712	c.3572_3573GG>AA	c.(3571-3573)cgg>cAA	p.R1191Q	SDK1_uc010kso.3_Missense_Mutation_p.R467Q	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1191	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.R1191W(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCAGCCTGCGGCTTCGCTGGG	0.639000														76			51		0	0	0.004672	0	0
RNFT1	51136	broad.mit.edu	37	17	58034687	58034687	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:58034687G>A	uc002iya.3	-	5	996	c.903C>T	c.(901-903)ccC>ccT	p.P301P	RNFT1_uc002iyb.3_Non-coding_Transcript|RNFT1_uc002iyc.3_Silent_p.P39P	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Homo sapiens ring finger protein, transmembrane 1 (RNFT1), mRNA.	301						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			AAACTGGTATGGGAACAAAAG	0.368000														42			28		0	0	0.008361	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563739	24563739	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:24563739C>T	uc011djo.2	-	15	2939	c.2439G>A	c.(2437-2439)agG>agA	p.R813R	KIAA0319_uc011djp.2_Silent_p.R768R|KIAA0319_uc003neh.1_Silent_p.R813R|KIAA0319_uc011djq.1_Silent_p.R804R|KIAA0319_uc011djr.1_Silent_p.R813R|KIAA0319_uc010jpt.1_Silent_p.R224R	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	813					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GGCCACTCTTCCTAGGGTCTG	0.537000														1			21		0	0	0.002780	0	0
TSC1	7248	broad.mit.edu	37	9	135802642	135802642	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:135802642G>A	uc004cca.2	-	3	390	c.156C>T	c.(154-156)acC>acT	p.T52T	TSC1_uc004ccb.3_Silent_p.T52T|TSC1_uc011mcq.1_Silent_p.T52T|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_Intron|TSC1_uc004ccc.1_Silent_p.T52T|TSC1_uc004cce.1_Silent_p.T52T	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	52					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCTGAGAGCTGGTTTCCAGGT	0.433000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					20			23		0	0	0.007291	0	0
RUFY2	55680	broad.mit.edu	37	10	70105617	70105617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:70105617C>T	uc001job.3	-	17	2161	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joa.3_Missense_Mutation_p.E167K	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	626						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AAAGGTAGTTCGTTGTCAGAG	0.403000														87			57		0	0	0.014410	0	0
ALB	213	broad.mit.edu	37	4	74274439	74274439	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:74274439C>T	uc003hgs.4	+	3	472	c.399C>T	c.(397-399)aaC>aaT	p.N133N	ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Silent_p.N23N	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	133	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGATGACAACCCAAACCTCC	0.418000														18			14		0	0	0.004990	0	0
MUC3A	4584	broad.mit.edu	37	7	100552243	100552243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:100552243C>T	uc003uxl.1	+	0	1494	c.694C>T	c.(694-696)Cct>Tct	p.P232S	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TACCATAGTCCCTGCCTCTCC	0.478000														246			52		0	0	0.014410	0	0
SLC18A2	6571	broad.mit.edu	37	10	119026272	119026272	+	Silent	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:119026272T>C	uc001ldd.2	+	10	1183	c.1020T>C	c.(1018-1020)tcT>tcC	p.S340S	SLC18A2_uc009xyy.2_Silent_p.S137S	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	340					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTAGTATCTCTTATCTCATTG	0.348000														105			68		0	0	0.014410	0	0
LAMA5	3911	broad.mit.edu	37	20	60900498	60900498	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:60900498C>T	uc002ycq.3	-	40	5470	c.5403G>A	c.(5401-5403)caG>caA	p.Q1801Q	LAMA5_uc021wfw.1_Silent_p.Q1801Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1801	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGAGGAGATCTGTGAGAAGA	0.662000														20			17		0	0	0.007413	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559378	44559378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:44559378C>T	uc002lcr.1	-	0	2611	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron|TCEB3C_uc010xdb.2_5'Flank	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	753					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGAGTTTATCGTCGGGAGAA	0.537000														72			45		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140783321	140783321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140783321G>A	uc003lkh.2	+	0	802	c.802G>A	c.(802-804)Gac>Aac	p.D268N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.D268N	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	268	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGCCAGCGACCTGGATGA	0.438000														45			33		0	0	0.013726	0	0
C1QL2	165257	broad.mit.edu	37	2	119915271	119915272	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:119915271_119915272GT>AA	uc002tlo.2	-	0	1200_1201	c.574_575AC>TT	c.(574-576)acg>TTg	p.T192L		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	192	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GAACTTGCCCGTGGTGGGGTCA	0.594000										HNSCC(49;0.14)				26			6		0	0	0.004672	0	0
GLRA3	8001	broad.mit.edu	37	4	175603979	175603979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:175603979C>T	uc003ity.1	-	5	1189	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	GLRA3_uc003itz.1_Missense_Mutation_p.R229Q	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	229					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R229P(2)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGTGCAGTATCGTAAATCTTT	0.373000														8			18		0	0	0.008871	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883880	19883880	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:19883880G>A	uc010vav.2	-	1	597	c.366C>T	c.(364-366)caC>caT	p.H122H	GPRC5B_uc021tef.1_Silent_p.H88H|GPRC5B_uc002dgt.3_Silent_p.H96H	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	96										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGAACAGAAAGTGGAGGCCCA	0.622000														22			15		0	0	0.004007	0	0
TRPM5	29850	broad.mit.edu	37	11	2434128	2434128	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:2434128C>T	uc010qxl.2	-	14	2220	c.2211G>A	c.(2209-2211)ggG>ggA	p.G737G	TRPM5_uc001lwm.4_Silent_p.G737G|TRPM5_uc009ydn.3_Silent_p.G739G	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	737						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGACCACGTTCCCCAGGAACA	0.662000														210			159		0	0	0.014410	0	0
LRBA	987	broad.mit.edu	37	4	151203626	151203626	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:151203626C>T	uc010ipj.3	-	55	8569	c.8325G>A	c.(8323-8325)acG>acA	p.T2775T	LRBA_uc010ipi.3_Silent_p.T297T|LRBA_uc003ils.4_Silent_p.T670T|LRBA_uc003ilt.4_Silent_p.T1423T|LRBA_uc003ilu.4_Silent_p.T2763T|LRBA_uc003ilr.4_Silent_p.T195T	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2775						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGTTTCCATCGTGGCCTGGA	0.468000														66			40		0	0	0.009718	0	0
RCN1	5954	broad.mit.edu	37	11	32126010	32126010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:32126010G>A	uc010reb.2	+	5	1254	c.988G>A	c.(988-990)Gag>Aag	p.E330K	RCN1_uc021qfp.1_Missense_Mutation_p.E164K|RCN1_uc001mtk.3_Missense_Mutation_p.E164K	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	330						endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AAATCATGATGAGCTTTGATA	0.393000														5			21		0	0	0.003954	0	0
ZBED2	79413	broad.mit.edu	37	3	111312559	111312560	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:111312559_111312560CC>TT	uc003dxy.3	-	1	1390_1391	c.489_490GG>AA	c.(487-492)agggaa>agAAaa	p.E164K	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.E164K	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	164							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						ACTGCCCTTTCCCTCCTAAGCA	0.604000														62			33		0	0	0.004672	0	0
SIRPD	128646	broad.mit.edu	37	20	1532579	1532579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:1532579C>T	uc002wfi.3	-	1	223	c.179G>A	c.(178-180)gGa>gAa	p.G60E		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	60	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAAGACAGGTCCATTTGGTAA	0.443000														35			37		0	0	0.003755	0	0
CLPB	81570	broad.mit.edu	37	11	72145343	72145343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:72145343G>A	uc001osj.3	-	0	226	c.176C>T	c.(175-177)tCg>tTg	p.S59L	CLPB_uc010rqx.2_5'UTR|CLPB_uc010rqy.2_Missense_Mutation_p.S59L|CLPB_uc001osk.3_Missense_Mutation_p.S59L|CLPB_uc010rqz.2_5'UTR	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	59					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CAAGGCCGGCGATGTTCCAGG	0.697000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			64		0	0	0.014410	0	0
ERC1	23085	broad.mit.edu	37	12	1225057	1225057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:1225057C>T	uc001qjb.2	+	6	1668	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.S448F|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.S476F|ERC1_uc010sdv.1_Missense_Mutation_p.S224F|ERC1_uc009zdp.3_Missense_Mutation_p.S116F	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	476					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CAGGAGCTGTCCAGAAAGGAC	0.398000														19			9		0	0	0.008291	0	0
LRRK1	79705	broad.mit.edu	37	15	101593520	101593520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:101593520C>T	uc002bwr.3	+	25	4268	c.3949C>T	c.(3949-3951)Ccc>Tcc	p.P1317S	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1317	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGCAGCACCCCTGCATCGT	0.662000														26			12		0	0	0.004007	0	0
TLR5	7100	broad.mit.edu	37	1	223285573	223285573	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:223285573G>A	uc021pjl.1	-	0	801	c.801C>T	c.(799-801)gcC>gcT	p.A267A	TLR5_uc001hnv.2_Silent_p.A267A|TLR5_uc001hnw.2_Silent_p.A267A	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	267					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGCCAAACCCGGCACCCATGA	0.493000														82			56		0	0	0.014410	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021250	142021250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:142021250G>A	uc011krr.1	+	1	415	c.230G>A	c.(229-231)gGa>gAa	p.G77E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.G77E					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAAACAAAGGAAACTTCCCT	0.517000														20			14		0	0	0.002450	0	0
WNT3A	89780	broad.mit.edu	37	1	228238405	228238406	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:228238405_228238406CC>TT	uc001hrp.2	+	2	469_470	c.362_363CC>TT	c.(361-363)gcc>gTT	p.A121V	WNT3A_uc001hrq.2_Missense_Mutation_p.A121V	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	121					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	p.A121D(2)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCGGTGTGGCCTTTGCAGTGA	0.629000														25			45		0	0	0.004672	0	0
ASCC3	10973	broad.mit.edu	37	6	101075584	101075584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:101075584C>T	uc003pqk.3	-	28	4853	c.4524G>A	c.(4522-4524)atG>atA	p.M1508I		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1508	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.M1508L(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAAACAAGCCCATCTAGAGTA	0.353000														3			7		0	0	0.003080	0	0
ANKMY1	51281	broad.mit.edu	37	2	241448827	241448827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:241448827G>A	uc010fzd.1	-	11	2457	c.2332C>T	c.(2332-2334)Cct>Tct	p.P778S	ANKMY1_uc002vzb.1_Missense_Mutation_p.P450S|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.P689S|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	689							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGCAGGTTAGGATTTGCTCCG	0.577000														11			3		0	0	0.009096	0	0
MYOCD	93649	broad.mit.edu	37	17	12656125	12656125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:12656125C>T	uc002gno.2	+	9	1819	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L	MYOCD_uc002gnn.2_Missense_Mutation_p.P507L|MYOCD_uc002gnp.1_Missense_Mutation_p.P411L|MYOCD_uc002gnq.2_Missense_Mutation_p.P226L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	507	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGCTCTGTTCCTTCTGAGCTG	0.572000														19			11		0	0	0.010729	0	0
OR51B4	79339	broad.mit.edu	37	11	5322905	5322905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:5322905G>A	uc010qza.2	-	0	272	c.272C>T	c.(271-273)gCc>gTc	p.A91V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A91S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGCATGGGCAATCTCCCT	0.502000														36			22		0	0	0.010504	0	0
RASEF	158158	broad.mit.edu	37	9	85627427	85627427	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:85627427C>T	uc004amo.1	-	5	1027	c.766_splice	c.e5-1	p.L256_splice		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	256					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTTCTTCGAGCTGAAAGACCA	0.318000														7			6		0	0	0.003080	0	0
FAM58A	92002	broad.mit.edu	37	X	152860031	152860031	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:152860031G>A	uc011myr.2	-	3	502	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	FAM58A_uc011mys.2_Nonsense_Mutation_p.Q131*	NM_152274	NP_689487	Q8N1B3	FA58A_HUMAN	Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA.	135					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGAGACCTGGAAGCGCAGA	0.542000														5			40		0	0	0.005524	0	0
KIAA1967	57805	broad.mit.edu	37	8	22470617	22470618	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:22470617_22470618CC>TT	uc003xch.3	+	7	921_922	c.672_673CC>TT	c.(670-675)taccgg>taTTgg	p.R225W	KIAA1967_uc003xci.3_Missense_Mutation_p.R225W|KIAA1967_uc003xcj.1_5'UTR	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	225					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.R225Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCCTCCTTACCGGGTCCACCT	0.545000														32			13		0	0	0.004672	0	0
ZNF423	23090	broad.mit.edu	37	16	49671409	49671409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:49671409C>T	uc002efs.3	-	4	1952	c.1654G>A	c.(1654-1656)Gtg>Atg	p.V552M	ZNF423_uc010vgn.2_Missense_Mutation_p.V435M	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	552					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCTGCACCACCGGAGACTCT	0.572000														53			20		0	0	0.010504	0	0
FLG	2312	broad.mit.edu	37	1	152286710	152286710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:152286710C>T	uc001ezu.1	-	2	688	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	218					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGTATTTTCATAATCATAT	0.353000									Ichthyosis					142			19		0	0	0.007413	0	0
MIA	8190	broad.mit.edu	37	19	41281685	41281685	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:41281685G>A	uc021uuu.1	+	2	197	c.156G>A	c.(154-156)caG>caA	p.Q52Q	RAB4B_uc010xvt.1_Non-coding_Transcript|RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002opd.2_5'Flank|RAB4B_uc002ope.2_5'Flank|EGLN2_uc010ehd.3_5'Flank|MIA_uc002opb.4_Silent_p.Q52Q	NM_001202553	NP_001189482	Q16674	MIA_HUMAN	Homo sapiens melanoma inhibitory activity (MIA), transcript variant 2, mRNA.	52	SH3.				cell proliferation	extracellular space	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		TGGCCCTTCAGGACTACATGG	0.602000														34			16		0	0	0.004007	0	0
TEP1	7011	broad.mit.edu	37	14	20851703	20851703	+	Silent	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:20851703A>G	uc001vxe.3	-	25	3851	c.3811T>C	c.(3811-3813)Tta>Cta	p.L1271L	TEP1_uc010ahk.3_Silent_p.L621L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L1163L|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1271	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGTCCACTAACCTATCAGCC	0.602000														23			19		0	0	0.007413	0	0
PNPLA6	10908	broad.mit.edu	37	19	7605065	7605065	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:7605065C>T	uc010xjq.2	+	6	852	c.612C>T	c.(610-612)ttC>ttT	p.F204F	PNPLA6_uc002mgq.2_Silent_p.F156F|PNPLA6_uc010xjp.2_Silent_p.F156F|PNPLA6_uc002mgr.2_Silent_p.F156F|PNPLA6_uc002mgs.3_Silent_p.F195F	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	195					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCCACTCTTCCTGGAGCTCT	0.682000														37			29		0	0	0.003755	0	0
CELSR1	9620	broad.mit.edu	37	22	46930583	46930583	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:46930583G>A	uc003bhw.1	-	0	2485	c.2485C>T	c.(2485-2487)Cag>Tag	p.Q829*		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	829	Cadherin 6.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGGGTCCTGAATCACGTAG	0.577000														36			29		0	0	0.007291	0	0
PAPPA	5069	broad.mit.edu	37	9	118997908	118997908	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:118997908C>T	uc004bjn.3	+	6	3105	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F	PAPPA_uc011lxp.1_Silent_p.F603F|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	908					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATAGGAAATTCGTAGACATGT	0.517000														56			47		0	0	0.014410	0	0
OR4C12	283093	broad.mit.edu	37	11	50003995	50003995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:50003995G>A	uc010ria.2	-	0	77	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTCTGTGTAAGACCTATTAAA	0.353000														26			21		0	0	0.008871	0	0
BTBD7	55727	broad.mit.edu	37	14	93723605	93723605	+	Missense_Mutation	SNP	G	A	A	rs113550651		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:93723605G>A	uc001ybo.3	-	5	1870	c.1544C>T	c.(1543-1545)tCt>tTt	p.S515F	BTBD7_uc010aur.3_Missense_Mutation_p.S40F|BTBD7_uc010two.2_Missense_Mutation_p.S335F|BTBD7_uc001ybp.3_Missense_Mutation_p.S164F|BTBD7_uc001ybq.4_Missense_Mutation_p.S430F	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	515										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGGTAAGAGAGAAGAAAGGAT	0.403000														52			41		0	0	0.011902	0	0
TMEM244	253582	broad.mit.edu	37	6	130152480	130152480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:130152480G>A	uc003qbs.3	-	4	454	c.371C>T	c.(370-372)tCa>tTa	p.S124L	ARHGAP18_uc021zfe.1_Intron	NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	Homo sapiens chromosome 6 open reading frame 191 (C6orf191), mRNA.	124						integral to membrane											AAGCAATTTTGATATACCTAA	0.269000														5			22		0	0	0.005443	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416987	121416987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:121416987G>A	uc010hrc.3	-	12	2509	c.2383C>T	c.(2383-2385)Cat>Tat	p.H795Y	GOLGB1_uc003eei.4_Missense_Mutation_p.H790Y|GOLGB1_uc003eej.4_Missense_Mutation_p.H756Y|GOLGB1_uc021xcy.1_Missense_Mutation_p.H715Y|GOLGB1_uc011bjm.1_Missense_Mutation_p.H676Y|GOLGB1_uc010hrd.1_Missense_Mutation_p.H754Y	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	790					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGGTTGTCATGGGCAGTTTGG	0.408000														57			57		0	0	0.014410	0	0
WIZ	58525	broad.mit.edu	37	19	15547870	15547870	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:15547870C>T	uc002nbb.4	-	2	490	c.276G>A	c.(274-276)cgG>cgA	p.R92R		NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	882						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AGAGGCCGGCCCGTGTGTCGA	0.627000														12			14		0	0	0.003163	0	0
CYC1	1537	broad.mit.edu	37	8	145151615	145151615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:145151615C>T	uc003zaz.4	+	4	783	c.740C>T	c.(739-741)cCc>cTc	p.P247L	CYC1_uc003zay.3_Missense_Mutation_p.P188L	NM_001916	NP_001907	P08574	CY1_HUMAN	Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.	247					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCCCCTCCCATCTACACA	0.582000														24			18		0	0	0.007413	0	0
PROC	5624	broad.mit.edu	37	2	128178999	128178999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:128178999G>A	uc002tol.3	+	2	301	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	PROC_uc002tok.3_Missense_Mutation_p.E71K|PROC_uc010yzi.2_Missense_Mutation_p.E92K|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Missense_Mutation_p.E92K	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	71					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGAGGCCAAGGAAATTTTCCA	0.587000														25			5		0	0	0.001168	0	0
ENPP2	5168	broad.mit.edu	37	8	120608182	120608182	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:120608182T>A	uc003yos.2	-	11	1119	c.1033A>T	c.(1033-1035)Aag>Tag	p.K345*	ENPP2_uc003yor.2_5'Flank|ENPP2_uc010mdd.2_Intron|ENPP2_uc003yot.2_Intron	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	324					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTCTCCTCTTAGGGGCAACT	0.458000														45			38		0	0	0.006230	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594521	140594521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140594521G>A	uc003lja.1	+	0	1013	c.826G>A	c.(826-828)Gga>Aga	p.G276R		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	276	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGTCAACGGAGAGATTTC	0.438000														99			59		0	0	0.014410	0	0
SHQ1	55164	broad.mit.edu	37	3	72799687	72799688	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:72799687_72799688GG>AA	uc003dpf.3	-	10	1588_1589	c.1481_1482CC>TT	c.(1480-1482)ccc>cTT	p.P494L	SHQ1_uc010hod.3_Missense_Mutation_p.P405L	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	494					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTTCAAGAAAGGGACCTTGCAA	0.475000														62			28		0	0	0.004672	0	0
NR6A1	2649	broad.mit.edu	37	9	127298359	127298359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:127298359C>T	uc004bor.1	-	6	1055	c.877G>A	c.(877-879)Gag>Aag	p.E293K	NR6A1_uc004boq.1_Missense_Mutation_p.E288K|NR6A1_uc010mwq.1_Missense_Mutation_p.E289K	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	293					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AAGAGCAGCTCGTCGGCCAGG	0.542000														51			49		0	0	0.014410	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902869	4902869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:4902869C>T	uc002mbm.3	-	0	11	c.11G>A	c.(10-12)aGa>aAa	p.R4K		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	4					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		ACATTCCTCTCTGTCCCCCAT	0.547000														35			28		0	0	0.009535	0	0
LILRB4	11006	broad.mit.edu	37	19	55178170	55178170	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:55178170G>A	uc002qgp.3	+	9	1373	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	LILRB4_uc002qgq.3_Silent_p.Q337Q|LILRB4_uc010ert.3_Silent_p.Q379Q|LILRB4_uc010eru.3_Silent_p.Q367Q	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	337						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGAACACACAGCCTGAGGACG	0.607000														49			32		0	0	0.012213	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64520858	64520858	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:64520858T>A	uc003jtp.3	-	16	2898	c.2084A>T	c.(2083-2085)aAt>aTt	p.N695I	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.N316I	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	695					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCCCAAAATATTATCACAGCC	0.393000														24			18		0	0	0.014323	0	0
IHH	3549	broad.mit.edu	37	2	219920510	219920510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:219920510C>T	uc002vjo.2	-	2	704	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	219					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGACAAGGCCACACGCGCC	0.667000														18			25		0	0	0.003954	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229467	8229467	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:8229467G>A	uc003gkv.4	+	11	2147	c.2046G>A	c.(2044-2046)gaG>gaA	p.E682E	SH3TC1_uc003gkw.4_Silent_p.E606E|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	682							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGCAGCCCGAGGAGGCCCTGC	0.701000														11			18		0	0	0.007413	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118331	118331	+	RNA	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrGL000205.1:118331C>T	uc002kgk.4	+	0		c.1709C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGGCGTGGCTCCAGGAGGACT	0.547000														42			4		0	0	0.000602	0	0
TXNDC16	57544	broad.mit.edu	37	14	53009099	53009099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:53009099G>A	uc001wzs.3	-	3	682	c.233C>T	c.(232-234)tCa>tTa	p.S78L	TXNDC16_uc010tqu.2_Missense_Mutation_p.S78L|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	78					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTGGCAACTGAAATTCCATA	0.318000														26			20		0	0	0.012319	0	0
OAS1	4938	broad.mit.edu	37	12	113346385	113346385	+	Missense_Mutation	SNP	C	A	A	rs142809544		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:113346385C>A	uc001tuc.3	+	1	331	c.225C>A	c.(223-225)gaC>gaA	p.D75E	OAS1_uc010syn.2_Missense_Mutation_p.D74E|OAS1_uc010syo.2_Missense_Mutation_p.D74E|OAS1_uc001tub.3_Missense_Mutation_p.D75E|OAS1_uc001tud.3_Missense_Mutation_p.D75E|OAS1_uc009zwf.3_Missense_Mutation_p.D74E	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	75					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCCGATCTGACGCTGACCTGG	0.498000														39			19		1.96292e-10	2.08452e-10	0.010504	1	0
EP400	57634	broad.mit.edu	37	12	132522282	132522282	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:132522282C>T	uc001ujn.3	+	30	6159	c.6007C>T	c.(6007-6009)Ctg>Ttg	p.L2003L	EP400_uc021rgq.1_Silent_p.L2002L|EP400_uc001ujm.3_Silent_p.L1922L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2039	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AACTAAAGATCTGATCCGAGA	0.443000														29			14		0	0	0.003163	0	0
BRCA2	675	broad.mit.edu	37	13	32918762	32918762	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:32918762C>T	uc001uub.1	+	11	7136	c.6909C>T	c.(6907-6909)tcC>tcT	p.S2303S		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2303					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAAAAATCCTTAAAGGCTT	0.289000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				26			16		0	0	0.004990	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801793	140801793	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140801793G>A	uc003lkq.2	+	0	1257	c.999G>A	c.(997-999)acG>acA	p.T333T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.T333T|PCDHGC5_uc003lkp.2_Silent_p.T333T	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	335	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCACGACGATGTTGATCA	0.408000														30			23		0	0	0.014323	0	0
FBN3	84467	broad.mit.edu	37	19	8154797	8154797	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:8154797G>A	uc002mjf.3	-	48	6248	c.6231C>T	c.(6229-6231)ggC>ggT	p.G2077G	FBN3_uc002mje.3_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2077						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGTCATCCGGGCCTGGGACTG	0.652000														10			3		0	0	0.004672	0	0
PLD5	200150	broad.mit.edu	37	1	242253243	242253243	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:242253243C>T	uc001hzn.2	-	10	1751	c.1524G>A	c.(1522-1524)ccG>ccA	p.P508P	PLD5_uc021pll.1_Silent_p.P416P|PLD5_uc001hzl.4_Silent_p.P446P|PLD5_uc001hzm.4_Silent_p.P300P|PLD5_uc001hzo.2_Silent_p.P416P	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	508						integral to membrane	catalytic activity	p.P508P(1)|p.P416P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGAGCAGTTCGGCTGTTTGG	0.453000														108			132		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179444752	179444753	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179444752_179444753CC>AT	uc021vsy.1	-	266	59782_59783	c.59557_59558GG>AT	c.(59557-59559)gga>ATa	p.G19853I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G13548I|TTN_uc021vta.1_Missense_Mutation_p.G13481I|TTN_uc021vtb.1_Missense_Mutation_p.G13356I|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20780	Ig-like 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGGATTTTCCCTCCTCCAAA	0.441000														67			54		0	0	0.004672	0	0
WNT5B	81029	broad.mit.edu	37	12	1748941	1748941	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:1748941C>T	uc009zdq.3	+	3	662	c.420C>T	c.(418-420)acC>acT	p.T140T	WNT5B_uc001qjj.3_Silent_p.T140T|WNT5B_uc001qjk.3_Silent_p.T140T|WNT5B_uc001qjl.3_Silent_p.T140T	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	140					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGCTCTCCACCTGCGGCTGCA	0.726000														21			6		0	0	0.001168	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625546	140625546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140625546C>T	uc003lje.3	+	0	400	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	134					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGAGTTTCCTGAAAGAGA	0.428000														43			29		0	0	0.013726	0	0
RCOR1	23186	broad.mit.edu	37	14	103180860	103180860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:103180860C>T	uc001ymb.3	+	7	1187	c.950C>T	c.(949-951)tCt>tTt	p.S317F		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	Homo sapiens REST corepressor 1 (RCOR1), mRNA.	317	Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding	p.L316H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ATGTTTCTTTCTCAAGAAGAT	0.438000														23			19		0	0	0.007413	0	0
FAM71F2	346653	broad.mit.edu	37	7	128315775	128315775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:128315775C>T	uc003vnk.4	+	1	333	c.227C>T	c.(226-228)aCc>aTc	p.T76I	FAM71F2_uc010llm.1_Missense_Mutation_p.T67I|FAM71F2_uc003vnl.3_Non-coding_Transcript|FAM71F2_uc010lln.2_Non-coding_Transcript	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	Homo sapiens family with sequence similarity 71, member F2 (FAM71F2), transcript variant 1, mRNA.	76										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GGGTCTGCCACCGTGATCCTC	0.587000														23			20		0	0	0.003330	0	0
RER1	11079	broad.mit.edu	37	1	2332314	2332314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:2332314C>T	uc001aje.2	+	4	496	c.305C>T	c.(304-306)cCc>cTc	p.P102L	RER1_uc001ajf.2_Missense_Mutation_p.P102L	NM_007033	NP_008964	O15258	RER1_HUMAN	Homo sapiens RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) (RER1), mRNA.	102					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		CCTTCGCTACCCACCAAACAG	0.483000														67			44		0	0	0.014410	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920159	51920159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:51920159G>A	uc002pwo.3	-	2	689	c.467C>T	c.(466-468)cCc>cTc	p.P156L	SIGLEC10_uc002pwp.3_Intron|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.P156L|SIGLEC10_uc010ycy.2_Missense_Mutation_p.P156L|SIGLEC10_uc010eow.3_5'UTR|LOC100129083_uc021uym.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	156	Ig-like C2-type 1.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P156P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGGCTGCCCGGGCTCCAGGGT	0.617000														137			8		0	0	0.004482	0	0
PCNXL2	80003	broad.mit.edu	37	1	233122283	233122283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:233122283C>T	uc001hvl.2	-	32	6030	c.5795G>A	c.(5794-5796)aGg>aAg	p.R1932K	PCNXL2_uc001hvk.1_Missense_Mutation_p.R584K|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1932						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCTTTCCTCCTGCCTTTAAA	0.582000														14			5		0	0	0.000602	0	0
MPP2	4355	broad.mit.edu	37	17	41957311	41957312	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:41957311_41957312CC>TT	uc010win.1	-	9	1377_1378	c.774_775GG>AA	c.(772-777)cagggt>caAAgt	p.G259S	MPP2_uc002ien.1_Missense_Mutation_p.G415S|MPP2_uc010wim.1_Missense_Mutation_p.G387S|MPP2_uc002ieo.1_Missense_Mutation_p.G398S|MPP2_uc010wio.1_Missense_Mutation_p.G387S|MPP2_uc010wip.1_Missense_Mutation_p.G443S			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	422	SH3.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AAGCTGTAACCCTGACCTTCCC	0.609000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			31		0	0	0.004672	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500874	149500874	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:149500874T>C	uc003lro.3	-	16	2825	c.2356A>G	c.(2356-2358)Acc>Gcc	p.T786A	PDGFRB_uc010jhd.3_Missense_Mutation_p.T625A	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	786	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.R785R(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCGGCAGGTCCTCTCAGGG	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									44			24		0	0	0.009535	0	0
PROS1	5627	broad.mit.edu	37	3	93598050	93598050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:93598050G>A	uc003drb.4	-	12	1942	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	PROS1_uc010hoo.3_Missense_Mutation_p.P403L|PROS1_uc003dqz.4_Missense_Mutation_p.P403L	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	534	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CACAGCAAAGGGCACTGTGTT	0.418000														35			22		0	0	0.012319	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966269	41966269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:41966269G>A	uc010skn.2	+	9	1696	c.1688G>A	c.(1687-1689)cGa>cAa	p.R563Q	PDZRN4_uc001rmq.4_Missense_Mutation_p.R305Q|PDZRN4_uc009zjz.3_Missense_Mutation_p.R303Q|PDZRN4_uc001rmr.3_Missense_Mutation_p.R190Q	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	563							ubiquitin-protein ligase activity|zinc ion binding	p.E562D(2)|p.R305Q(1)|p.R563Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAAGCTTGCGAAATGATGAG	0.493000														15			5		0	0	0.000602	0	0
CACNB1	782	broad.mit.edu	37	17	37333757	37333757	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:37333757T>C	uc002hrm.2	-	12	1386	c.1178A>G	c.(1177-1179)cAa>cGa	p.Q393R	CACNB1_uc002hrl.1_Missense_Mutation_p.Q165R|CACNB1_uc002hrn.3_Missense_Mutation_p.Q393R|CACNB1_uc002hro.3_Missense_Mutation_p.Q438R	NM_000723	NP_000714	Q02641	CACB1_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 1 subunit (CACNB1), transcript variant 1, mRNA.	393					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATCCTCCAATTGGTTCTCATC	0.607000														23			16		0	0	0.006122	0	0
NKD1	85407	broad.mit.edu	37	16	50667172	50667172	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:50667172A>C	uc002egg.2	+	9	1117	c.893A>C	c.(892-894)cAt>cCt	p.H298P		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	298					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCTCGCTCCCATGAGCCGGAA	0.592000														75			44		0	0	0.014410	0	0
WDR34	89891	broad.mit.edu	37	9	131397188	131397188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:131397188C>T	uc004bvq.1	-	6	1118	c.994G>A	c.(994-996)Gag>Aag	p.E332K		NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	Homo sapiens WD repeat domain 34 (WDR34), mRNA.	332						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCTCGGTCTCCCCGCGGGGA	0.627000											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			6		0	0	0.001168	0	0
MSS51	118490	broad.mit.edu	37	10	75185684	75185684	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:75185684C>T	uc009xrh.3	-	5	1096	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	MSS51_uc001juc.3_Silent_p.L318L|MSS51_uc001jud.3_Silent_p.L318L|MSS51_uc009xrg.3_Silent_p.L97L	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN	Homo sapiens zinc finger, MYND-type containing 17 (ZMYND17), mRNA.	318							zinc ion binding										TGCCAGGTTCCAGGGGTGAAG	0.542000														18			16		0	0	0.003163	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178580539	178580539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:178580539C>T	uc003mjw.3	-	8	1570	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	ADAMTS2_uc011dgm.2_Missense_Mutation_p.E490K	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	490	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGCATTGCTCGTTCATGGAG	0.667000														25			8		0	0	0.003080	0	0
SLC12A5	57468	broad.mit.edu	37	20	44665398	44665398	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:44665398T>C	uc010zxl.1	+	4	590	c.514T>C	c.(514-516)Tcc>Ccc	p.S172P	SLC12A5_uc002xra.2_Missense_Mutation_p.S149P|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.S149P	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	172					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACGGCCATCTCCATGAGTGC	0.602000														44			30		0	0	0.003271	0	0
RYR1	6261	broad.mit.edu	37	19	38954093	38954093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:38954093C>T	uc002oit.3	+	20	2738	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	RYR1_uc002oiu.3_Missense_Mutation_p.R870W	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	870	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGCGCATTCGGGAGAAGCT	0.642000														29			14		0	0	0.004990	0	0
NEBL	10529	broad.mit.edu	37	10	21134298	21134298	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:21134298C>T	uc001iqi.3	-	12	1514	c.1117_splice	c.e12-1	p.K373_splice	NEBL_uc001iqj.3_Splice_Site|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	373					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTAAACTTTCTGTTAAATAA	0.323000														18			16		0	0	0.004990	0	0
LILRP2	79166	broad.mit.edu	37	19	55221349	55221349	+	RNA	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:55221349G>A	uc002qgs.1	+	0		c.1749G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GCGTGTCTAGGAAGCCCTCCC	0.612000														19			13		0	0	0.001855	0	0
MKI67	4288	broad.mit.edu	37	10	129897478	129897478	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:129897478A>C	uc001lke.3	-	14	9942	c.9747T>G	c.(9745-9747)agT>agG	p.S3249R	MKI67_uc001lkf.3_Missense_Mutation_p.S2889R	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	3249					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTCCCTATGACTTCTGGTTC	0.313000														11			15		0	0	0.006122	0	0
DYSF	8291	broad.mit.edu	37	2	71908217	71908217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:71908217G>A	uc010fen.3	+	53	6291	c.6150G>A	c.(6148-6150)atG>atA	p.M2050I	DYSF_uc010fei.3_Missense_Mutation_p.M2028I|DYSF_uc010feh.3_Missense_Mutation_p.M2018I|DYSF_uc002sig.4_Missense_Mutation_p.M1997I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.M2042I|DYSF_uc010fee.3_Missense_Mutation_p.M2032I|DYSF_uc010fef.3_Missense_Mutation_p.M2049I|DYSF_uc002sie.3_Missense_Mutation_p.M2011I|DYSF_uc010feo.3_Missense_Mutation_p.M2043I|DYSF_uc010fej.3_Missense_Mutation_p.M2019I|DYSF_uc010fel.3_Missense_Mutation_p.M1998I|DYSF_uc010fem.3_Missense_Mutation_p.M2033I|DYSF_uc002sif.3_Missense_Mutation_p.M2012I|DYSF_uc010fek.3_Missense_Mutation_p.M2029I|DYSF_uc010yqy.2_Missense_Mutation_p.M892I|DYSF_uc010yqz.2_Missense_Mutation_p.M772I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2011						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCCCAACATGAACCCTAAGC	0.607000														36			14		0	0	0.003163	0	0
NME7	29922	broad.mit.edu	37	1	169272414	169272414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:169272414G>A	uc001gfu.3	-	4	647	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	NME7_uc001gft.3_Missense_Mutation_p.H101Y|NME7_uc010plq.2_Non-coding_Transcript|NME7_uc001gfv.1_Missense_Mutation_p.H137Y	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.	137					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TGATCTACATGAAAATCCAAT	0.284000														67			11		0	0	0.001855	0	0
NLGN2	57555	broad.mit.edu	37	17	7319288	7319288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7319288C>T	uc002ggt.1	+	5	1569	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	499					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCAGATGCGGCGCACGGGGAT	0.612000														38			17		0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179566919	179566919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179566919C>T	uc021vsy.1	-	104	26980	c.26755G>A	c.(26755-26757)Gca>Aca	p.A8919T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A5580T|TTN_uc010fre.1_Missense_Mutation_p.A30T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9846	Ig-like 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P8918S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAGCTCTGCCGTGCTTCTT	0.478000														30			18		0	0	0.010504	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887849	30887849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:30887849C>T	uc003aid.2	-	9	983	c.883G>A	c.(883-885)Gag>Aag	p.E295K	SEC14L4_uc011akz.1_Missense_Mutation_p.E295K|SEC14L4_uc003aie.2_Missense_Mutation_p.E280K|SEC14L4_uc003aif.2_Missense_Mutation_p.E241K	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	295	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AACAGGATCTCGTTCTCCACC	0.652000														6			5		0	0	0.001168	0	0
ENPP5	59084	broad.mit.edu	37	6	46133226	46133226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:46133226G>A	uc003oxz.1	-	2	1112	c.904C>T	c.(904-906)Cca>Tca	p.P302S	ENPP5_uc010jzc.1_Missense_Mutation_p.P302S|ENPP5_uc011dvz.1_Missense_Mutation_p.P208S|ENPP5_uc003oya.1_Missense_Mutation_p.P302S	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	302						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CACCTTTCTGGAACGTCTTCT	0.398000														90			40		0	0	0.006230	0	0
ZNF100	163227	broad.mit.edu	37	19	21909539	21909539	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:21909539G>A	uc002nqi.3	-	4	1774	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	ZNF100_uc002nqh.3_Silent_p.S461S	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TAAGGCTTAGGGACTGGTTAA	0.358000														53			26		0	0	0.006320	0	0
ARIH2	10425	broad.mit.edu	37	3	49005998	49005998	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:49005998C>T	uc003cvb.3	+	6	882	c.570C>T	c.(568-570)ctC>ctT	p.L190L	ARIH2_uc003cvc.3_Silent_p.L190L|ARIH2_uc003cvf.3_Silent_p.L108L|ARIH2_uc010hkl.3_Silent_p.L190L	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	190					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACTGTCCACTCCGTACACCAG	0.502000														87			53		0	0	0.014410	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922713	43922713	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:43922713C>T	uc010wka.2	+	0	458	c.441C>T	c.(439-441)acC>acT	p.T147T	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	147						integral to membrane	aspartic-type endopeptidase activity										CAGACCTCACCATCCCTGTGG	0.657000														23			16		0	0	0.003163	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117244	117244	+	RNA	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrGL000205.1:117244G>A	uc002kgk.4	+	0		c.622G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TGAGGAATTCGCCCCCAGATC	0.522000														65			10		0	0	0.001855	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530769	140530769	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140530769C>T	uc003lir.3	+	0	931	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	311	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGGAAATTCAGTCTTATGA	0.468000														46			29		0	0	0.009535	0	0
TLL2	7093	broad.mit.edu	37	10	98136548	98136548	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:98136548C>T	uc001kml.2	-	17	2590	c.2349G>A	c.(2347-2349)gtG>gtA	p.V783V		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	783	CUB 4.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGGTCCCCTCCACACTGCTGA	0.577000														41			26		0	0	0.005443	0	0
MSTN	2660	broad.mit.edu	37	2	190922148	190922148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:190922148G>A	uc002urp.3	-	2	1097	c.964C>T	c.(964-966)Cct>Tct	p.P322S		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	322					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.P322L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGAGTATGAGGATATTTTTGT	0.393000														21			22		0	0	0.012319	0	0
TOX2	84969	broad.mit.edu	37	20	42693450	42693450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:42693450G>A	uc010ggo.3	+	5	953	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	TOX2_uc002xle.4_Missense_Mutation_p.E263K|TOX2_uc010ggp.3_Missense_Mutation_p.E263K|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Missense_Mutation_p.E183K	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCAAAGAAGGAATATCTGAA	0.562000														63			29		0	0	0.010818	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353731	45353731	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:45353731G>T	uc002xsl.3	+	1	153	c.56G>T	c.(55-57)gGc>gTc	p.G19V		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	19						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TTGCTGGGTGGCCTGACCTTT	0.527000														53			49		9.86064e-34	1.05393e-33	0.014410	1	0
GCAT	23464	broad.mit.edu	37	22	38209569	38209569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:38209569C>T	uc003aua.2	+	3	670	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	GCAT_uc003atz.3_Missense_Mutation_p.R177C	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	177					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GTACCGCTATCGCCACCTGGA	0.662000														23			16		0	0	0.002780	0	0
CHSY1	22856	broad.mit.edu	37	15	101718446	101718446	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:101718446A>G	uc021sxt.1	-	2	2032	c.1556T>C	c.(1555-1557)cTc>cCc	p.L519P	CHSY1_uc010usd.2_Missense_Mutation_p.L247P	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	519					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.L519F(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGACCCAGGGAGCTGAAAGGG	0.458000														62			33		0	0	0.005524	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581115	234581115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:234581115G>A	uc002vus.3	+	0	572	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.E179K	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	182					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CTATCTTGAAGAAGGTGCACA	0.473000														119			85		0	0	0.014410	0	0
AANAT	15	broad.mit.edu	37	17	74464885	74464885	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:74464885G>A	uc021udg.1	+	4	1199	c.192G>A	c.(190-192)ggG>ggA	p.G64G	AANAT_uc002jro.3_Silent_p.G19G|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	19	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						TGCCACCTGGGATCCCCGAGT	0.662000														22			8		0	0	0.003080	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243456409	243456409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:243456409C>T	uc001hzw.3	+	5	732	c.563C>T	c.(562-564)tCt>tTt	p.S188F	SDCCAG8_uc010pyk.2_Missense_Mutation_p.S43F|SDCCAG8_uc010pyl.2_Intron|SDCCAG8_uc001hzx.3_Intron|SDCCAG8_uc001hzy.1_Missense_Mutation_p.S4F	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	188					G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATGCACAATTCTTGGATTACA	0.373000														61			42		0	0	0.010771	0	0
TTN	7273	broad.mit.edu	37	2	179581966	179581966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179581966C>T	uc021vsy.1	-	84	21988	c.21763G>A	c.(21763-21765)Gga>Aga	p.G7255R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3916R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8182	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTTGCCTCCAGGGCGAATC	0.458000														39			19		0	0	0.010504	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852081	38852081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:38852081C>T	uc001zke.4	-	1	339	c.161G>A	c.(160-162)gGa>gAa	p.G54E	RASGRP1_uc001zkd.4_Missense_Mutation_p.G54E	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	54	N-terminal Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	p.G54*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GGCTAAATGTCCCAGAGACAC	0.512000														22			26		0	0	0.007291	0	0
C1orf51	148523	broad.mit.edu	37	1	150258992	150258992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:150258992C>T	uc001euj.3	+	4	1233	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	C1orf51_uc001euh.3_Missense_Mutation_p.H262Y|C1orf51_uc001eui.3_Missense_Mutation_p.H174Y	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	262										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCTGGATCCACACCACTCC	0.502000														155			21		0	0	0.002780	0	0
PLS1	5357	broad.mit.edu	37	3	142403096	142403096	+	Splice_Site	SNP	T	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:142403096T>G	uc010huv.3	+	8	905	c.746_splice	c.e8-1	p.A249_splice	PLS1_uc003euz.3_Splice_Site_p.A249_splice|PLS1_uc003eva.3_Splice_Site_p.A249_splice	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	249	Actin-binding 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TGCCCTCAGCTCTGATTGCAT	0.413000														61			5		0	0	0.001984	0	0
NPC1	4864	broad.mit.edu	37	18	21141479	21141479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:21141479G>A	uc002kum.4	-	4	750	c.476C>T	c.(475-477)gCc>gTc	p.A159V	NPC1_uc010xaz.2_5'Flank|NPC1_uc010xba.1_Missense_Mutation_p.A4V	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	159					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATCCCGGCAGGCATTGTACAT	0.502000														59			66		0	0	0.014410	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529656	6529656	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:6529656G>A	uc001anp.1	-	17	2610	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	PLEKHG5_uc001ann.1_Silent_p.I664I|PLEKHG5_uc001ano.1_Silent_p.I683I|PLEKHG5_uc001anq.1_Silent_p.I704I|PLEKHG5_uc001anj.1_Silent_p.I188I|PLEKHG5_uc009vma.1_Silent_p.I467I|PLEKHG5_uc010nzr.1_Silent_p.I696I|PLEKHG5_uc001ank.1_Silent_p.I627I|PLEKHG5_uc009vmb.1_Silent_p.I627I|PLEKHG5_uc001anl.1_Silent_p.I627I|PLEKHG5_uc001anm.1_Silent_p.I627I	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	683	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGTGGCCTGATGACCCTGG	0.607000														41			25		0	0	0.003330	0	0
LIG3	3980	broad.mit.edu	37	17	33326328	33326328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:33326328G>A	uc002hik.2	+	14	2245	c.2116G>A	c.(2116-2118)Ggc>Agc	p.G706S	LIG3_uc002hij.3_Missense_Mutation_p.G706S	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	706					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CCTCCCAGGCGGCATGATGTC	0.612000								Other BER factors						33			17		0	0	0.007413	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117358151	117358151	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:117358151A>G	uc003vjf.3	-	21	4759	c.4667T>C	c.(4666-4668)tTa>tCa	p.L1556S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1556										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAACATCCTTAAATCATCCCT	0.423000														23			19		0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179587434	179587434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179587434C>T	uc021vsy.1	-	72	18685	c.18460G>A	c.(18460-18462)Gaa>Aaa	p.E6154K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2815K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7081	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6153W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTATTTTCTGCTTTGCAT	0.338000														20			11		0	0	0.010729	0	0
FAM5B	57795	broad.mit.edu	37	1	177225096	177225097	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:177225096_177225097GG>AA	uc001glf.3	+	2	623_624	c.311_312GG>AA	c.(310-312)agg>aAA	p.R104K	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	104						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCTCTGGAAAGGAAGGACTTCT	0.495000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		126			29		0	0	0.004672	0	0
VPS41	27072	broad.mit.edu	37	7	38785191	38785191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:38785191C>T	uc003tgy.3	-	22	1975	c.1949G>A	c.(1948-1950)aGa>aAa	p.R650K	VPS41_uc003tgz.3_Missense_Mutation_p.R625K|VPS41_uc010kxn.3_Missense_Mutation_p.R561K|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	650					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TACAAAGTTTCTCTGTTGACA	0.328000														58			38		0	0	0.011902	0	0
IL18R1	8809	broad.mit.edu	37	2	103013227	103013227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:103013227G>A	uc002tbw.4	+	10	1657	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	IL18R1_uc010ywd.2_Missense_Mutation_p.D347N|IL18R1_uc010fiy.3_Missense_Mutation_p.D503N|IL18R1_uc010ywc.2_Missense_Mutation_p.D502N	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	503	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTGGAAGGCCGATAAATCTCT	0.388000														58			40		0	0	0.010771	0	0
C12orf40	283461	broad.mit.edu	37	12	40114940	40114940	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:40114940C>T	uc001rmc.3	+	12	2013	c.1846C>T	c.(1846-1848)Cta>Tta	p.L616L	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	616								p.L616I(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACAGTGTGATCTAATTTCAAA	0.413000														37			30		0	0	0.007291	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499750	104499750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:104499750G>A	uc004bbp.2	-	0	1113	c.512C>T	c.(511-513)tCg>tTg	p.S171L	GRIN3A_uc004bbq.1_Missense_Mutation_p.S171L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	171					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTCCATGGCGAACTAGGGGA	0.607000														22			13		0	0	0.013537	0	0
WDR93	56964	broad.mit.edu	37	15	90281389	90281389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:90281389C>T	uc002boj.3	+	15	1984	c.1883C>T	c.(1882-1884)cCt>cTt	p.P628L	WDR93_uc010bnr.3_Missense_Mutation_p.P600L|WDR93_uc010upz.2_Missense_Mutation_p.P345L	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	628					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTACCATTCCTCAAAGGGAC	0.458000														176			125		0	0	0.014410	0	0
USP7	7874	broad.mit.edu	37	16	9012978	9012979	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:9012978_9012979GT>AA	uc002czl.2	-	5	828_829	c.629_630AC>TT	c.(628-630)cac>cTT	p.H210L	USP7_uc010uyk.1_Missense_Mutation_p.H111L|USP7_uc010uyj.1_Missense_Mutation_p.H111L|USP7_uc002czk.2_Missense_Mutation_p.H194L|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	210					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGTAGCCTGTGTGCTTCTTTGA	0.460000														59			41		0	0	0.004672	0	0
OSBPL5	114879	broad.mit.edu	37	11	3111846	3111846	+	Silent	SNP	G	A	A	rs139713716		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:3111846G>A	uc001lxk.2	-	19	2498	c.2340C>T	c.(2338-2340)tcC>tcT	p.S780S	OSBPL5_uc010qxq.1_Silent_p.S691S|OSBPL5_uc009ydw.2_Silent_p.S712S|OSBPL5_uc001lxl.2_Silent_p.S712S|OSBPL5_uc001lxj.2_Silent_p.S234S	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	780					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding	p.G779G(1)|p.G779V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ACTCAGGCGTGGATCCGCTGC	0.667000														28			21		0	0	0.014323	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186345	50186346	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:50186345_50186346GG>AA	uc009zlk.2	-	11	3877_3878	c.3675_3676CC>TT	c.(3673-3678)acccct>acTTct	p.P1226S	NCKAP5L_uc001rvc.3_Missense_Mutation_p.P430S|NCKAP5L_uc001rvb.2_Missense_Mutation_p.P819S	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	1222	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGGACAGGAGGGGTGGGGCCTG	0.649000														31			19		0	0	0.004672	0	0
SLC17A7	57030	broad.mit.edu	37	19	49944628	49944628	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:49944628G>A	uc002pnp.3	-	0	181	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	3					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCTCCTGGCGGAACTCCATGG	0.751000														6			13		0	0	0.003163	0	0
APOB	338	broad.mit.edu	37	2	21227313	21227313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:21227313C>T	uc002red.3	-	27	12043	c.11915G>A	c.(11914-11916)gGa>gAa	p.G3972E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3972					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGCGCTTTTCCTTCCCATTC	0.463000														306			192		0	0	0.014410	0	0
RRP12	23223	broad.mit.edu	37	10	99126318	99126318	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:99126318G>A	uc001knf.3	-	27	3415	c.3276C>T	c.(3274-3276)agC>agT	p.S1092S	RRP12_uc001kne.3_Silent_p.S107S|RRP12_uc009xvl.3_Silent_p.S209S|RRP12_uc009xvm.3_Silent_p.S810S|RRP12_uc010qou.2_Silent_p.S1031S|RRP12_uc009xvn.3_Silent_p.S992S	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1092						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCTTGCCTCGGCTTCTTTCCT	0.587000														70			50		0	0	0.014410	0	0
DNAH7	56171	broad.mit.edu	37	2	196788389	196788389	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:196788389G>A	uc002utj.4	-	22	3856	c.3755C>T	c.(3754-3756)tCa>tTa	p.S1252L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1252	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTACAAGTGATGAGAGGAC	0.408000														27			27		0	0	0.007291	0	0
NRG3	10718	broad.mit.edu	37	10	84745329	84745329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:84745329G>A	uc021pvc.1	+	9	2158	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	NRG3_uc010qlz.1_Missense_Mutation_p.E686K|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.E687K|NRG3_uc001kcp.2_Missense_Mutation_p.E490K|NRG3_uc001kcq.2_Missense_Mutation_p.E337K|NRG3_uc021pvd.1_Missense_Mutation_p.E466K|NRG3_uc021pve.1_Missense_Mutation_p.E491K|NRG3_uc021pvf.1_Missense_Mutation_p.E337K|NRG3_uc021pvg.1_Missense_Mutation_p.E515K|NRG3_uc021pvh.1_Missense_Mutation_p.E299K|NRG3_uc021pvi.1_Missense_Mutation_p.E517K|NRG3_uc021pvk.1_Missense_Mutation_p.E227K|NRG3_uc001kcr.2_Missense_Mutation_p.E361K|NRG3_uc021pvl.1_Missense_Mutation_p.E337K	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	711					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.E687K(1)|p.E490K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTTAAGAAATGAAATACAAAG	0.438000														36			18		0	0	0.007413	0	0
OR2G2	81470	broad.mit.edu	37	1	247752256	247752256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:247752256G>A	uc010pyy.2	+	0	595	c.595G>A	c.(595-597)Gag>Aag	p.E199K		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACGTTTAACGAGGCTGAGCT	0.522000														83			80		0	0	0.014410	0	0
AQP4	361	broad.mit.edu	37	18	24440760	24440760	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:24440760G>A	uc002kwa.3	-	3	732	c.669C>T	c.(667-669)atC>atT	p.I223I	AQP4_uc002kvz.3_Silent_p.I201I	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	223					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AATTTCCCATGATAACTGCAG	0.418000														92			49		0	0	0.014410	0	0
PGBD1	84547	broad.mit.edu	37	6	28269230	28269230	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:28269230C>T	uc003nky.3	+	6	2019	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	PGBD1_uc003nkz.3_Silent_p.F533F	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	533					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATAAAAATTTCCTCTTGTATG	0.348000														12			69		0	0	0.014410	0	0
VIT	5212	broad.mit.edu	37	2	37041367	37041367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:37041367G>A	uc002rpl.3	+	15	2247	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	VIT_uc002rpm.3_Missense_Mutation_p.E634K|VIT_uc010ezv.3_Missense_Mutation_p.E612K|VIT_uc010ezw.3_Missense_Mutation_p.E613K	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	634	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTGCCCAAGAGGAGCTAGA	0.512000														25			22		0	0	0.003954	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64511157	64511157	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:64511157G>A	uc003jtp.3	-	18	3244	c.2430C>T	c.(2428-2430)atC>atT	p.I810I	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.I431I	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	810	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.I810I(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTACCATGACGATGAGATTTT	0.418000														33			25		0	0	0.005443	0	0
SSPO	23145	broad.mit.edu	37	7	149516521	149516521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:149516521C>T	uc010lpk.3	+	83	11915	c.11915C>T	c.(11914-11916)cCc>cTc	p.P3972L	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3975	TSP type-1 17.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCATACCGTCCCCCTGGGCCC	0.706000														16			8		0	0	0.003080	0	0
FAM171B	165215	broad.mit.edu	37	2	187627382	187627382	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:187627382C>T	uc002ups.3	+	7	2425	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	FAM171B_uc002upr.1_Silent_p.I738I|FAM171B_uc002upt.3_Silent_p.I240I	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	771						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTGGAGTGATCATGGAGCACC	0.502000														40			21		0	0	0.010504	0	0
MCM3	4172	broad.mit.edu	37	6	52134018	52134018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:52134018G>A	uc003pan.1	-	12	1944	c.1834C>T	c.(1834-1836)Cca>Tca	p.P612S	MCM3_uc011dwu.1_Missense_Mutation_p.P566S	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	612					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GCTGTAACTGGAGATGTCTAG	0.512000														40			80		0	0	0.014410	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476383	87476383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:87476383G>A	uc003uje.3	-	7	887	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	171					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AAACTTCTTGGACTGCATCTT	0.383000														100			53		0	0	0.014410	0	0
TPTE2	93492	broad.mit.edu	37	13	19997296	19997296	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:19997296A>T	uc001umd.3	-	20	1686	c.1475T>A	c.(1474-1476)cTa>cAa	p.L492Q	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.L381Q|TPTE2_uc001ume.3_Missense_Mutation_p.L415Q|TPTE2_uc009zzm.3_Missense_Mutation_p.L163Q|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.L163Q	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	492	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATTTCTTGGTAGACAAAGCCT	0.363000														21			5		0	0	0.000602	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74538651	74538651	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:74538651C>T	uc001xpo.3	-	4	474	c.375G>A	c.(373-375)ttG>ttA	p.L125L	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Silent_p.L112L|ALDH6A1_uc010asa.3_5'UTR	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	125						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TCCCTTGTTCCAATGTGATTA	0.418000														31			34		0	0	0.003755	0	0
CDAN1	146059	broad.mit.edu	37	15	43021262	43021262	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:43021262G>A	uc001zql.3	-	18	2721	c.2604C>T	c.(2602-2604)ttC>ttT	p.F868F	CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Silent_p.F194F	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	868			F -> I (in CDA1).			integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTTCTGCCACGAACTCTACGG	0.547000														52			43		0	0	0.014410	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767518	143767518	+	Nonsense_Mutation	SNP	G	A	A	rs66906173		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:143767518G>A	uc001ejt.3	-	0	364	c.331C>T	c.(331-333)Cag>Tag	p.Q111*		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	111	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ATGAAAAACTGGGAACCATTT	0.473000														481			52		0	0	0.014410	0	0
OR7G2	390882	broad.mit.edu	37	19	9213689	9213689	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:9213689C>T	uc010xkk.2	-	0	294	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TCTTTGGGATCGTGGTTGTGC	0.488000														54			35		0	0	0.004289	0	0
TCTA	6988	broad.mit.edu	37	3	49449940	49449940	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:49449940G>A	uc003cwv.4	+	0	302	c.81G>A	c.(79-81)cgG>cgA	p.R27R	RHOA_uc010hku.3_5'Flank|RHOA_uc003cwu.3_5'Flank	NM_022171	NP_071503	P57738	TCTA_HUMAN	Homo sapiens T-cell leukemia translocation altered gene (TCTA), mRNA.	27						integral to membrane				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTTCTTGCGGGAGTGGGAGG	0.677000														50			23		0	0	0.014323	0	0
SALL4	57167	broad.mit.edu	37	20	50408550	50408550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:50408550C>T	uc002xwh.4	-	1	573	c.472G>A	c.(472-474)Gag>Aag	p.E158K	SALL4_uc010gii.3_Missense_Mutation_p.E158K|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	158					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGCTGTCTCTGTCTTTAGG	0.567000														124			165		0	0	0.014410	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217656	150217657	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:150217656_150217657GG>AA	uc003whk.3	+	1	724_725	c.594_595GG>AA	c.(592-597)ggggct>ggAAct	p.A199T	GIMAP7_uc022apu.1_Missense_Mutation_p.A199T	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	199							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAACGAAGGGGCTTACTTTTC	0.431000														52			26		0	0	0.004672	0	0
OR8B3	390271	broad.mit.edu	37	11	124266550	124266550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:124266550C>T	uc010saj.2	-	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTTTGATCTTCCTTGAGTGGA	0.373000														9			51		0	0	0.014410	0	0
OR52N2	390077	broad.mit.edu	37	11	5842175	5842175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:5842175G>A	uc010qzp.2	+	0	610	c.610G>A	c.(610-612)Gtt>Att	p.V204I	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTCTGATGGTTGCTCTCCT	0.463000														126			87		0	0	0.014410	0	0
CACNA1A	773	broad.mit.edu	37	19	13397781	13397781	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:13397781C>T	uc002mwy.3	-	20	3326	c.3090_splice	c.e20-1	p.K1030_splice	CACNA1A_uc010dzc.2_Splice_Site_p.K556_splice|CACNA1A_uc010xnd.2_Splice_Site_p.K1033_splice|CACNA1A_uc021ups.1_Splice_Site_p.K1030_splice|CACNA1A_uc010xne.2_Splice_Site_p.K1033_splice|CACNA1A_uc010dze.2_Splice_Site_p.K1030_splice|CACNA1A_uc021upt.1_Splice_Site_p.K1031_splice	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1031					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTGGTTCTCTCTGAGGAAGGC	0.532000														12			14		0	0	0.002450	0	0
RORC	6097	broad.mit.edu	37	1	151787076	151787077	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:151787076_151787077CC>TT	uc001ezh.3	-	5	1014_1015	c.906_907GG>AA	c.(904-909)cgggag>cgAAag	p.E303K	RORC_uc001ezg.3_Missense_Mutation_p.E282K|RORC_uc010pdo.2_Missense_Mutation_p.E357K|RORC_uc010pdp.2_Missense_Mutation_p.E303K	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	303	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCACTTCCTCCCGGGAGAAGA	0.634000														28			15		0	0	0.004672	0	0
TIE1	7075	broad.mit.edu	37	1	43773225	43773225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:43773225G>A	uc001ciu.3	+	5	1072	c.895G>A	c.(895-897)Gga>Aga	p.G299R	TIE1_uc010okd.2_Missense_Mutation_p.G299R|TIE1_uc010oke.2_Missense_Mutation_p.G254R|TIE1_uc009vwq.3_Missense_Mutation_p.G255R|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'UTR|TIE1_uc010okc.2_Missense_Mutation_p.G299R	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	299	EGF-like 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGCTGGAGAGGAAGCCAGTG	0.617000														45			34		0	0	0.003271	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32527498	32527498	+	RNA	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:32527498C>G	uc001utu.2	+	3		c.1256C>G			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		TCAACAAGATCTGGCCTGAGT	0.478000														24			18		0	0	0.010504	0	0
TLR5	7100	broad.mit.edu	37	1	223285080	223285080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:223285080C>T	uc021pjl.1	-	0	1294	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	TLR5_uc001hnv.2_Missense_Mutation_p.E432K|TLR5_uc001hnw.2_Missense_Mutation_p.E432K	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	432			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGCCTGTTTTCTGATAAGTGG	0.393000														51			53		0	0	0.014410	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41010070	41010070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:41010070C>T	uc003jmj.4	-	30	3737	c.3247G>A	c.(3247-3249)Gat>Aat	p.D1083N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D638N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1083							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ACAACTGTATCCATGTGAAAG	0.438000														37			27		0	0	0.010818	0	0
MAS1	4142	broad.mit.edu	37	6	160328869	160328869	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:160328869C>T	uc003qsz.3	+	0	896	c.882C>T	c.(880-882)tcC>tcT	p.S294S		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	294					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCAAGGAGTCCTTAAAAGTTG	0.438000														14			34		0	0	0.003755	0	0
SLC17A6	57084	broad.mit.edu	37	11	22384297	22384297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:22384297G>A	uc001mqk.3	+	5	1087	c.674G>A	c.(673-675)gGa>gAa	p.G225E		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	225					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G225K(2)|p.G225E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCCTATGCCGGAGCTGTGATT	0.398000														43			25		0	0	0.008361	0	0
MGAM	8972	broad.mit.edu	37	7	141732641	141732641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:141732641C>T	uc003vwy.3	+	13	1655	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	534	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATGAAGTCTCCAACTTTGTT	0.363000														12			5		0	0	0.000602	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188515	70188515	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:70188515G>A	uc002sfz.4	-	0	883	c.306C>T	c.(304-306)gtC>gtT	p.V102V		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	102					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AAGGTTCCGGGACGAAGGCAT	0.577000														45			22		0	0	0.004656	0	0
DNAH5	1767	broad.mit.edu	37	5	13753569	13753569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:13753569C>T	uc003jfd.2	-	62	10687	c.10645G>A	c.(10645-10647)Gaa>Aaa	p.E3549K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3549					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTTCATTTCCTTCCGCCAG	0.403000									Kartagener syndrome					74			48		0	0	0.014410	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383299	61383299	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:61383299C>T	uc002ljk.4	+	5	556	c.385C>T	c.(385-387)Caa>Taa	p.Q129*	SERPINB11_uc010xes.2_Intron|SERPINB11_uc010dqd.3_Nonsense_Mutation_p.Q16*|SERPINB11_uc002ljj.4_Nonsense_Mutation_p.Q16*|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	130					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GAAATGGTATCAAGCCAGGTT	0.338000														15			9		0	0	0.010729	0	0
SMC3	9126	broad.mit.edu	37	10	112356173	112356173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:112356173C>T	uc001kze.3	+	18	2107	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	661	Flexible hinge.				DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.H660Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGTCAGCCATCGGGGTGCTCT	0.353000														29			23		0	0	0.006320	0	0
MYH8	4626	broad.mit.edu	37	17	10295884	10295884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10295884C>T	uc002gmm.2	-	37	5638	c.5543G>A	c.(5542-5544)cGa>cAa	p.R1848Q	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1848					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1848*(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTTACTCGTCGCTCATGTTT	0.408000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					78			53		0	0	0.014410	0	0
ERC2	26059	broad.mit.edu	37	3	56330433	56330433	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:56330433C>A	uc021wzo.1	-	1	828	c.688G>T	c.(688-690)Gat>Tat	p.D230Y	ERC2_uc003dhr.1_Missense_Mutation_p.D230Y	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	230						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGCAGCTCATCTTGAAGGGCC	0.522000														33			18		3.32936e-07	3.52992e-07	0.006122	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20495418	20495418	+	RNA	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:20495418C>T	uc001ytf.1	+	4		c.621C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		GAAAATGAATCCACAGCTCTA	0.383000														77			11		0	0	0.013537	0	0
PTK2B	2185	broad.mit.edu	37	8	27255116	27255116	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:27255116C>T	uc003xfn.2	+	6	823	c.15C>T	c.(13-15)tcC>tcT	p.S5S	PTK2B_uc022ate.1_Silent_p.S5S|PTK2B_uc003xfp.2_Silent_p.S5S|PTK2B_uc003xfq.2_Silent_p.S5S	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	5					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTGGGGTGTCCGAGCCCCTGA	0.602000														41			42		0	0	0.014410	0	0
FOXN1	8456	broad.mit.edu	37	17	26851638	26851638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:26851638C>T	uc010crm.3	+	2	439	c.241C>T	c.(241-243)Cac>Tac	p.H81Y	FOXN1_uc002hbj.3_Missense_Mutation_p.H81Y	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	81					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGTCCAGGGCCACTGCCCAGC	0.677000														23			18		0	0	0.004990	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461461	10461461	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:10461461A>G	uc021xwo.1	+	4	766	c.583A>G	c.(583-585)Aag>Gag	p.K195E	ROPN1L_uc003jex.4_Missense_Mutation_p.K195E	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	195					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						TGCCTCTCTAAAGGAAAATAT	0.453000														56			43		0	0	0.014410	0	0
TCRA	0	broad.mit.edu	37	14	22539349	22539349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:22539349C>T	uc001wcy.3	+	1	256	c.245C>T	c.(244-246)cCc>cTc	p.P82L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		TTTTACATTCCCTCAGGGACA	0.478000														24			22		0	0	0.002780	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334373	39334373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:39334373C>T	uc002hwd.3	-	0	88	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA.	15	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CTCTAGGCCACAGCCCTGGTC	0.612000														56			34		0	0	0.004289	0	0
PRUNE2	158471	broad.mit.edu	37	9	79461488	79461489	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:79461488_79461489CC>TT	uc010mpk.3	-	3	574_575	c.450_451GG>AA	c.(448-453)aaggag>aaAAag	p.E151K	PRUNE2_uc022bih.1_5'UTR|PRUNE2_uc004akn.3_Missense_Mutation_p.E151K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	151					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.E151E(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGGAGAATCTCCTTTAGCACGA	0.475000														28			20		0	0	0.004672	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582844	120582845	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:120582844_120582845CC>TT	uc001txo.3	-	39	5050_5051	c.5037_5038GG>AA	c.(5035-5040)aaggcc>aaAAcc	p.A1680T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1680					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCCCAAGGGCCTTTGCAGATA	0.574000														35			17		0	0	0.004672	0	0
GDF2	2658	broad.mit.edu	37	10	48414365	48414365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:48414365C>T	uc001jfa.1	-	1	663	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	168					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GACCACGCTTCCTTTCAGGTC	0.507000														32			12		0	0	0.010729	0	0
ZNF618	114991	broad.mit.edu	37	9	116769719	116769719	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:116769719G>A	uc004bid.3	+	7	739	c.640_splice	c.e7+1	p.V214_splice	ZNF618_uc004bib.1_Splice_Site_p.V182_splice|ZNF618_uc004bic.3_Splice_Site_p.V182_splice|ZNF618_uc011lxi.2_Splice_Site_p.V182_splice|ZNF618_uc011lxj.2_Splice_Site_p.V182_splice	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGCAGTGGATGGTGAGTCAGG	0.572000														15			11		0	0	0.002450	0	0
STON2	85439	broad.mit.edu	37	14	81745057	81745057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:81745057C>T	uc010tvu.2	-	3	796	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	STON2_uc001xvk.1_Missense_Mutation_p.E200K|STON2_uc010tvt.2_5'UTR	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	200					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCTACTTCTTCATCTTCTTGA	0.507000														54			39		0	0	0.006230	0	0
SHROOM2	357	broad.mit.edu	37	X	9912692	9912692	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:9912692C>T	uc004csu.1	+	8	4413	c.4323C>T	c.(4321-4323)atC>atT	p.I1441I	SHROOM2_uc004csv.2_Silent_p.I275I|SHROOM2_uc011mic.1_Silent_p.I276I|SHROOM2_uc004csw.1_Silent_p.I276I	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1441	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGAGCTCATCGAGAGCATCA	0.687000														1			10		0	0	0.013537	0	0
CSMD1	64478	broad.mit.edu	37	8	3087727	3087727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:3087727G>A	uc022aqr.1	-	26	4570	c.4180C>T	c.(4180-4182)Cca>Tca	p.P1394S	CSMD1_uc011kwj.2_Missense_Mutation_p.P787S|CSMD1_uc003wqe.3_Missense_Mutation_p.P551S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1395	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCATACCTGGATCGTTACAG	0.522000														11			3		0	0	0.004672	0	0
GEMIN5	25929	broad.mit.edu	37	5	154275824	154275824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:154275824G>A	uc003lvx.3	-	23	3508	c.3425C>T	c.(3424-3426)tCc>tTc	p.S1142F	GEMIN5_uc011ddk.1_Missense_Mutation_p.S1141F	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1142					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTAAGAGGAGGAGCTTTTGCC	0.542000														26			12		0	0	0.001855	0	0
LRP1B	53353	broad.mit.edu	37	2	141459360	141459360	+	Silent	SNP	C	T	T	rs139951414	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:141459360C>T	uc002tvj.1	-	39	7329	c.6357G>A	c.(6355-6357)acG>acA	p.T2119T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2119					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATGGTTATCGTTTCTGTGG	0.413000										TSP Lung(27;0.18)				39			29		0	0	0.009535	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876350	74876350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:74876350G>A	uc001xpx.2	-	1	346	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	33					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TTCCTGGCAGGACCAGCTGGG	0.662000														39			22		0	0	0.003954	0	0
OR1B1	347169	broad.mit.edu	37	9	125391365	125391365	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:125391365G>A	uc011lyz.2	-	0	450	c.450C>T	c.(448-450)agC>agT	p.S150S		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ACACCACCCAGCTCAAGGCTA	0.547000														22			8		0	0	0.004482	0	0
CCDC135	84229	broad.mit.edu	37	16	57734062	57734062	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:57734062C>T	uc002emi.3	+	3	473	c.384C>T	c.(382-384)ttC>ttT	p.F128F	CCDC135_uc002emj.3_Silent_p.F128F|CCDC135_uc002emk.3_Silent_p.F128F	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	128						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGCAGAAGTTCGTGAGCACAA	0.572000														118			71		0	0	0.014410	0	0
ETV1	2115	broad.mit.edu	37	7	13971334	13971334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:13971334G>A	uc021zzz.1	-	6	682	c.595C>T	c.(595-597)Cct>Tct	p.P199S	ETV1_uc021zzt.1_Missense_Mutation_p.P159S|ETV1_uc021zzu.1_Missense_Mutation_p.P96S|ETV1_uc021zzv.1_Missense_Mutation_p.P141S|ETV1_uc021zzw.1_Missense_Mutation_p.P159S|ETV1_uc021zzx.1_Missense_Mutation_p.P96S|ETV1_uc021zzy.1_Missense_Mutation_p.P141S|ETV1_uc022aaa.1_Missense_Mutation_p.P181S|ETV1_uc022aab.1_Missense_Mutation_p.P199S|ETV1_uc003ssw.4_Missense_Mutation_p.P199S|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.P181S|ETV1_uc022aad.1_Missense_Mutation_p.P181S|ETV1_uc010ktv.3_Missense_Mutation_p.P68S	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	199					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTCGGCAAAGGAGGAAAGGAG	0.478000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									28			13		0	0	0.013537	0	0
CXorf36	79742	broad.mit.edu	37	X	45059862	45059862	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:45059862C>T	uc004dgg.2	-	0	285	c.210G>A	c.(208-210)aaG>aaA	p.K70K	CXorf36_uc004dgi.3_Silent_p.K70K	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	70						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						TAAAGAACTTCTTGCAAATAG	0.383000														4			20		0	0	0.014323	0	0
ZNF160	90338	broad.mit.edu	37	19	53572715	53572715	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:53572715T>C	uc010eqk.3	-	6	1488	c.1072A>G	c.(1072-1074)Acc>Gcc	p.T358A	ZNF160_uc002qaq.4_Missense_Mutation_p.T358A|ZNF160_uc002qar.4_Missense_Mutation_p.T358A	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	358					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AACTGATGGGTAGTTAGGTTT	0.378000														57			36		0	0	0.004878	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147315	26147315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:26147315G>A	uc002dof.3	+	1	1509	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	373					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CAAAGTACAGGATTTTCTAGG	0.507000														33			25		0	0	0.004656	0	0
HTR3A	3359	broad.mit.edu	37	11	113860336	113860336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:113860336G>A	uc010rxb.2	+	7	1635	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	HTR3A_uc010rxa.2_Missense_Mutation_p.E436K|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.E415K	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	430					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCAATTCCTGGAAAAGCGGGA	0.647000														22			33		0	0	0.003271	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967284	41967284	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:41967284C>T	uc010skn.2	+	9	2711	c.2703C>T	c.(2701-2703)atC>atT	p.I901I	PDZRN4_uc001rmq.4_Silent_p.I643I|PDZRN4_uc009zjz.3_Silent_p.I641I|PDZRN4_uc001rmr.3_Silent_p.I528I	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	901							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CACGGTACATCACAAAGAGAC	0.522000														41			30		0	0	0.012213	0	0
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Silent	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:54754889T>C	uc010yer.1	-	12	1857	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	388					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597000														13			6		0	0	0.006214	0	0
BAI3	577	broad.mit.edu	37	6	70049224	70049224	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:70049224G>A	uc010kak.3	+	25	3564	c.3288_splice	c.e25-1	p.M1096_splice	BAI3_uc003pev.4_Splice_Site_p.M1096_splice|BAI3_uc011dxx.2_Splice_Site_p.M302_splice	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1096					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTCTCAACAGGGCGTCTCTT	0.478000														19			67		0	0	0.014410	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21008089	21008089	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:21008089G>T	uc010sil.2	+	1	277	c.212G>T	c.(211-213)gGa>gTa	p.G71V	SLCO1B3_uc001rek.3_Missense_Mutation_p.G71V|SLCO1B3_uc001rel.3_Missense_Mutation_p.G71V|SLCO1B3_uc010sim.2_Missense_Mutation_p.G71V			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	71					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTAATTGATGGAAGCTTTGAA	0.318000														13			8		2.17888e-05	2.30828e-05	0.006214	1	0
DSCAM	1826	broad.mit.edu	37	21	41648186	41648186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:41648186G>A	uc002yyq.1	-	10	2646	c.2194C>T	c.(2194-2196)Ccc>Tcc	p.P732S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	732	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAACTGGGGAACCCCAGCA	0.478000														21			23		0	0	0.005443	0	0
SCRIB	23513	broad.mit.edu	37	8	144886272	144886272	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:144886272A>T	uc003yzp.1	-	21	3071	c.3064T>A	c.(3064-3066)Tcc>Acc	p.S1022T	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.S1022T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1022	Interaction with ARHGEF7.|PDZ 3.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAATGGTCGGAGCCTCCGACA	0.627000														11			9		0	0	0.008291	0	0
MYH3	4621	broad.mit.edu	37	17	10541731	10541731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10541731C>T	uc002gmq.2	-	26	3446	c.3358G>A	c.(3358-3360)Gaa>Aaa	p.E1120K		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1120					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATCTCCTCTTCCAGCTCCTCA	0.637000														21			15		0	0	0.004990	0	0
CNOT6	57472	broad.mit.edu	37	5	179977018	179977018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:179977018C>T	uc003mlx.3	+	2	549	c.200C>T	c.(199-201)cCt>cTt	p.P67L	CNOT6_uc010jld.3_Missense_Mutation_p.P67L|CNOT6_uc010jle.3_Missense_Mutation_p.P67L	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	67					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TCCCGAATTCCTTCAGACATT	0.428000														131			41		0	0	0.008740	0	0
GJA10	84694	broad.mit.edu	37	6	90604507	90604507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:90604507G>A	uc011eaa.2	+	0	320	c.320G>A	c.(319-321)aGg>aAg	p.R107K		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	107					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GAGAAAGACAGGCAGAGGAAA	0.458000														6			21		0	0	0.012319	0	0
KLK3	354	broad.mit.edu	37	19	51361525	51361525	+	Silent	SNP	G	A	A	rs147547638	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:51361525G>A	uc021uyi.1	+	2	488	c.447G>A	c.(445-447)ggG>ggA	p.G149G	KLK3_uc002pts.1_Silent_p.G149G|KLK3_uc002ptr.1_Silent_p.G106G|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	149	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.G149W(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAGCACTGGGGACCACCTGCT	0.652000														27			24		0	0	0.002780	0	0
GPR98	84059	broad.mit.edu	37	5	90024619	90024619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:90024619C>T	uc003kju.3	+	48	10391	c.10295C>T	c.(10294-10296)tCc>tTc	p.S3432F	GPR98_uc003kjt.3_Missense_Mutation_p.S1138F|GPR98_uc003kjv.3_Missense_Mutation_p.S1032F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3432					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGCTAAACTCCCTTTTATTC	0.478000														30			31		0	0	0.007291	0	0
VCAN	1462	broad.mit.edu	37	5	82816938	82816938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:82816938C>T	uc003kii.3	+	6	3169	c.2813C>T	c.(2812-2814)tCt>tTt	p.S938F	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S938F|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	938	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.S938Y(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGCCAGTATCTACTGTTCCC	0.438000														67			32		0	0	0.012213	0	0
SYT15	83849	broad.mit.edu	37	10	46965032	46965032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:46965032G>A	uc001jea.3	-	5	1066	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F	SYT15_uc001jdz.2_Missense_Mutation_p.L305F|SYT15_uc001jeb.3_Missense_Mutation_p.L183F|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	305	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGGAGCCGGAGGCCCTTGGCA	0.637000														26			6		0	0	0.001984	0	0
ATP8A1	10396	broad.mit.edu	37	4	42627695	42627695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:42627695C>T	uc003gwr.2	-	2	432	c.200G>A	c.(199-201)aGa>aAa	p.R67K	ATP8A1_uc003gws.2_Missense_Mutation_p.R67K|ATP8A1_uc011byz.1_Missense_Mutation_p.R67K	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	67					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTAGAGAAATCTTGGAAGGAA	0.348000														13			15		0	0	0.006122	0	0
BZRAP1	9256	broad.mit.edu	37	17	56384174	56384174	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:56384174G>A	uc002ivx.4	-	24	6010	c.5139C>T	c.(5137-5139)ctC>ctT	p.L1713L	BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Silent_p.L1653L|BZRAP1_uc010wnt.2_Silent_p.L1713L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1713						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCCCTCAAGGAGAATATCTG	0.592000														20			14		0	0	0.001855	0	0
FGD6	55785	broad.mit.edu	37	12	95488388	95488388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:95488388G>A	uc001tdp.4	-	14	3804	c.3580C>T	c.(3580-3582)Cct>Tct	p.P1194S	FGD6_uc009zsx.3_Missense_Mutation_p.P327S|FGD6_uc001tdq.1_Missense_Mutation_p.P230S	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	1194					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCCTACTAGGACAGAAGGTG	0.393000														51			40		0	0	0.009718	0	0
C15orf2	23742	broad.mit.edu	37	15	24924145	24924146	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:24924145_24924146GG>AA	uc001ywo.3	+	0	3605_3606	c.3131_3132GG>AA	c.(3130-3132)ggg>gAA	p.G1044E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1044					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGACAGAGTGGGACACCCAGCA	0.574000														27			13		0	0	0.004672	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364235	23364235	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:23364235T>G	uc002dln.3	+	2	601	c.425T>G	c.(424-426)tTc>tGc	p.F142C		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	142					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AACCTGAACTTCTCCATCTGG	0.522000														58			46		0	0	0.014410	0	0
CLDN17	26285	broad.mit.edu	37	21	31538540	31538540	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:31538540G>A	uc011acv.2	-	0	432	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	132					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GAATCAGAACGAAGATGCCCG	0.512000														66			42		0	0	0.009718	0	0
FARSA	2193	broad.mit.edu	37	19	13041140	13041140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:13041140C>T	uc002mvs.2	-	3	448	c.400G>A	c.(400-402)Gat>Aat	p.D134N	FARSA_uc010xmv.1_Missense_Mutation_p.D134N	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	134					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TGCACCTCATCCTCCATGCTG	0.662000														42			25		0	0	0.004656	0	0
LRRC55	219527	broad.mit.edu	37	11	56954765	56954765	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:56954765C>T	uc001njl.2	+	1	984	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	249						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCGAGGGCGCCCCGCTCTTCT	0.597000														56			48		0	0	0.014410	0	0
FBXL18	80028	broad.mit.edu	37	7	5545151	5545151	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:5545151G>A	uc003soo.2	-	1	223	c.129C>T	c.(127-129)gtC>gtT	p.V43V	FBXL18_uc003son.4_Silent_p.V43V	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	43	F-box.								FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTGTGCTGGGGACGTGACTCA	0.567000														35			32		0	0	0.013726	0	0
CDH15	1013	broad.mit.edu	37	16	89254573	89254573	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:89254573G>A	uc002fmt.3	+	6	935	c.858G>A	c.(856-858)agG>agA	p.R286R		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	286	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGGAGGACAGGGACCTGCCAG	0.642000														14			10		0	0	0.001855	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005895	118005895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:118005895C>T	uc003ibv.4	-	0	842	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	219	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAAGAAGTCCCAAATGATTC	0.388000														29			11		0	0	0.010729	0	0
ZNF160	90338	broad.mit.edu	37	19	53571903	53571903	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:53571903C>T	uc010eqk.3	-	6	2300	c.1884G>A	c.(1882-1884)aaG>aaA	p.K628K	ZNF160_uc002qaq.4_Silent_p.K628K|ZNF160_uc002qar.4_Silent_p.K628K	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	628					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GCCTAAAAACCTTGCCGCATT	0.413000														46			38		0	0	0.004289	0	0
HERC2	8924	broad.mit.edu	37	15	28408265	28408265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:28408265G>A	uc001zbj.3	-	68	10827	c.10721C>T	c.(10720-10722)tCc>tTc	p.S3574F		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3574					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCCATGCCGGAAAGCACCGC	0.647000														45			19		0	0	0.010504	0	0
KRT6A	3853	broad.mit.edu	37	12	52886924	52886924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:52886924C>T	uc001sam.3	-	0	258	c.49G>A	c.(49-51)Ggt>Agt	p.G17S		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	17	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.R16W(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACTGAAACCCCGGCGGCTG	0.652000														42			19		0	0	0.008871	0	0
DSC1	1823	broad.mit.edu	37	18	28737418	28737418	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:28737418C>T	uc002kwn.3	-	2	529	c.267G>A	c.(265-267)agG>agA	p.R89R	DSC1_uc002kwm.3_Silent_p.R89R	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	89					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AAAAACTTTTCCTTTCAGAAG	0.428000														31			22		0	0	0.014323	0	0
ABCC10	89845	broad.mit.edu	37	6	43412968	43412968	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:43412968C>T	uc003ouy.1	+	13	3161	c.2946C>T	c.(2944-2946)acC>acT	p.T982T	ABCC10_uc003ouz.1_Silent_p.T954T|ABCC10_uc010jyo.1_Silent_p.T88T	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	982	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCCTCTGCACCCTTCTCCGGG	0.592000														37			43		0	0	0.014410	0	0
ZNF211	10520	broad.mit.edu	37	19	58145224	58145224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:58145224C>T	uc002qpr.2	+	1	341	c.38C>T	c.(37-39)tCc>tTc	p.S13F	ZNF211_uc010yhb.1_Intron|ZNF211_uc002qpp.2_Intron|ZNF211_uc002qpq.2_Intron|ZNF211_uc002qpt.2_Missense_Mutation_p.S13F|ZNF211_uc010yhc.1_Missense_Mutation_p.S13F|ZNF211_uc010yhe.1_Intron|ZNF211_uc010yhd.1_Intron	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		gaatatttttccaaggccaca	0.502000														14			4		0	0	0.009096	0	0
CYP26A1	1592	broad.mit.edu	37	10	94837052	94837052	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:94837052G>A	uc001kil.2	+	6	1530	c.1485G>A	c.(1483-1485)ggG>ggA	p.G495G	CYP26A1_uc001kik.1_Silent_p.G426G	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	495					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				ATTTCCATGGGGAAATCTGAT	0.393000														20			16		0	0	0.006122	0	0
SV2A	9900	broad.mit.edu	37	1	149882239	149882239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:149882239C>T	uc001etg.3	-	4	1463	c.972G>A	c.(970-972)atG>atA	p.M324I	SV2A_uc001eth.2_Missense_Mutation_p.M324I	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	324					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGCAGAACCCATCTGAAAAC	0.587000														28			10		0	0	0.006214	0	0
HNRNPK	3190	broad.mit.edu	37	9	86585198	86585199	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:86585198_86585199GG>AA	uc004ang.4	-	15	1463_1464	c.1239_1240CC>TT	c.(1237-1242)atccgt>atTTgt	p.R414C	HNRNPK_uc011lsw.2_Missense_Mutation_p.R174C|HNRNPK_uc004and.4_Missense_Mutation_p.R174C|HNRNPK_uc004anf.4_Missense_Mutation_p.R414C|HNRNPK_uc004anh.4_Missense_Mutation_p.R390C|HNRNPK_uc011lsx.2_Missense_Mutation_p.R390C|HNRNPK_uc004anl.4_Missense_Mutation_p.R414C|HNRNPK_uc004anm.4_Missense_Mutation_p.R414C|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	414	2 X 22 AA approximate repeats.|KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GACTCATGACGGATTTGTTTAA	0.381000														29			28		0	0	0.004672	0	0
CLNK	116449	broad.mit.edu	37	4	10542157	10542157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:10542157G>A	uc003gmo.4	-	10	700	c.563C>T	c.(562-564)tCt>tTt	p.S188F	CLNK_uc003gmp.3_Missense_Mutation_p.S146F	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	188					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GTGTCTCTGAGATAAAGGTGG	0.547000														31			24		0	0	0.009535	0	0
PFKFB3	5209	broad.mit.edu	37	10	6264931	6264931	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:6264931C>T	uc001ije.3	+	10	1581	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	PFKFB3_uc001ijd.3_Silent_p.F379F|PFKFB3_uc009xii.3_Intron|PFKFB3_uc010qaw.2_Silent_p.F413F|PFKFB3_uc001ijf.3_Silent_p.F399F|PFKFB3_uc001ijg.3_5'Flank|PFKFB3_uc009xij.3_5'Flank|PFKFB3_uc009xik.3_5'Flank|PFKFB3_uc009xil.3_5'Flank	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	399	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TTGCCTACTTCCTGGATAAGA	0.667000														17			7		0	0	0.003080	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840535	153840535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:153840535C>T	uc021xgc.1	+	1	1038	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	ARHGEF26-AS1_uc003ezu.1_5'Flank|ARHGEF26_uc011bog.1_Missense_Mutation_p.P252S|ARHGEF26_uc011boh.1_Missense_Mutation_p.P252S	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	252					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GCAGATCATTCCGAAGAGTCT	0.532000														7			8		0	0	0.003080	0	0
KRT37	8688	broad.mit.edu	37	17	39580346	39580346	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:39580346C>A	uc002hwp.1	-	0	477	c.430G>T	c.(430-432)Gag>Tag	p.E144*		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	144	Linker 1.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACGGTGGACTCGTGGCACTTG	0.607000														52			25		2.27525e-19	2.42792e-19	0.003954	1	0
DNAH5	1767	broad.mit.edu	37	5	13820501	13820501	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:13820501C>T	uc003jfd.2	-	40	6837	c.6795G>A	c.(6793-6795)ggG>ggA	p.G2265G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2265	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTCCCAGCCCCACTGGGCC	0.542000									Kartagener syndrome					30			16		0	0	0.003163	0	0
OBSL1	23363	broad.mit.edu	37	2	220431775	220431775	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:220431775G>A	uc010fwk.3	-	4	2225	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	OBSL1_uc010fwl.2_Silent_p.L637L|OBSL1_uc002vmi.3_Silent_p.L637L	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	637					cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGGAGAGATCGAGGGAGAAGA	0.612000														7			8		0	0	0.003080	0	0
DUSP15	128853	broad.mit.edu	37	20	30436348	30436348	+	Silent	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:30436348A>G	uc002wwu.1	-	9	824	c.747T>C	c.(745-747)ccT>ccC	p.P249P	FOXS1_uc002wwt.1_5'Flank			Q9H1R2	DUS15_HUMAN	Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA.	249						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACGAGCTCCCAGGCCGAAGCT	0.637000														8			4		0	0	0.000602	0	0
SLC25A32	81034	broad.mit.edu	37	8	104419988	104419988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:104419988G>A	uc003yll.3	-	1	482	c.179C>T	c.(178-180)cCg>cTg	p.P60L	SLC25A32_uc011lhr.2_5'UTR	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	60					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	ATTATATTTCGGTCTCAGTTC	0.403000														34			31		0	0	0.010818	0	0
MMP20	9313	broad.mit.edu	37	11	102496038	102496038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:102496038G>A	uc001phc.3	-	0	26	c.13C>T	c.(13-15)Cct>Tct	p.P5S		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	5					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CCAGATGCAGGGAGCACCTTC	0.532000														7			9		0	0	0.004482	0	0
CACNB3	784	broad.mit.edu	37	12	49220860	49220860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:49220860C>T	uc001rsl.2	+	11	1553	c.1094C>T	c.(1093-1095)cCt>cTt	p.P365L	CACNB3_uc010sly.2_Missense_Mutation_p.P352L|CACNB3_uc010slz.2_Missense_Mutation_p.P364L|CACNB3_uc001rsk.2_Missense_Mutation_p.P212L|CACNB3_uc021qxm.1_Missense_Mutation_p.P324L	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	365					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CACCCAGCCCCTGGCCCCGGA	0.597000														78			42		0	0	0.011902	0	0
PDE1A	5136	broad.mit.edu	37	2	183070667	183070667	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:183070667C>T	uc002uos.3	-	9	1034	c.950_splice	c.e9+1	p.R317_splice	PDE1A_uc010zfp.1_Splice_Site_p.R213_splice|PDE1A_uc002uoq.1_Splice_Site_p.R317_splice|PDE1A_uc010zfq.1_Splice_Site_p.R317_splice|PDE1A_uc002uor.3_Splice_Site_p.R301_splice|PDE1A_uc002uou.3_Splice_Site_p.R283_splice	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	317	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TGAAACTCACCTCCAGTCATC	0.363000														23			7		0	0	0.004482	0	0
AKAP11	11215	broad.mit.edu	37	13	42875638	42875638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:42875638C>T	uc001uys.2	+	7	2931	c.2756C>T	c.(2755-2757)tCc>tTc	p.S919F		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	919					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CCTCCATTTTCCCACTGTGAT	0.358000														20			18		0	0	0.007413	0	0
IRF6	3664	broad.mit.edu	37	1	209968651	209968651	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:209968651G>A	uc001hhq.2	-	4	796	c.492C>T	c.(490-492)ccC>ccT	p.P164P	IRF6_uc010psm.2_Silent_p.P69P	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	164					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGTTCAGGAAGGGGAAGGTGT	0.498000										HNSCC(57;0.16)				68			149		0	0	0.014410	0	0
SPINK5	11005	broad.mit.edu	37	5	147480127	147480127	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:147480127C>T	uc003lox.2	+	12	1276	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	SPINK5_uc010jgs.1_Silent_p.S373S|SPINK5_uc010jgr.2_Silent_p.S382S|SPINK5_uc003low.2_Silent_p.S401S|SPINK5_uc003loy.2_Silent_p.S401S	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	401	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.S401F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCTGCTCCATGTGTGAGG	0.478000														28			32		0	0	0.003755	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232649942	232649942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:232649942C>T	uc001hvg.3	-	0	1302	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	382					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCTTGCTCCCTAAAGGGGAC	0.507000														168			39		0	0	0.006230	0	0
DNAH2	146754	broad.mit.edu	37	17	7678168	7678168	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7678168C>T	uc002giu.1	+	27	4607	c.4593C>T	c.(4591-4593)ttC>ttT	p.F1531F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1531	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GACATATTTTCCCCCGCTTCT	0.458000														43			37		0	0	0.004878	0	0
CLRN1	7401	broad.mit.edu	37	3	150690456	150690456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:150690456C>T	uc021xfs.1	-	0	331	c.40G>A	c.(40-42)Gga>Aga	p.G14R	CLRN1-AS1_uc011bny.1_Intron|CLRN1-AS1_uc003eyl.2_5'Flank|CLRN1_uc003eyk.1_Missense_Mutation_p.G14R|CLRN1_uc021xft.1_Non-coding_Transcript|CLRN1_uc021xfu.1_Non-coding_Transcript|CLRN1_uc021xfv.1_Missense_Mutation_p.G14R|CLRN1_uc021xfw.1_Non-coding_Transcript	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	14					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGAACACTCCGGCCATGCAA	0.502000														36			26		0	0	0.004656	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833908	24833908	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:24833908A>C	uc001iru.4	+	20	5615	c.5212_splice	c.e20-2	p.G1738_splice	KIAA1217_uc001irs.3_Splice_Site_p.G1059_splice|KIAA1217_uc001irt.4_Splice_Site_p.G1104_splice|KIAA1217_uc010qcy.2_Splice_Site_p.G1169_splice|KIAA1217_uc010qcz.2_Splice_Site_p.G1144_splice|KIAA1217_uc001irw.3_Splice_Site_p.G888_splice|KIAA1217_uc001irz.3_Splice_Site_p.G822_splice|KIAA1217_uc001irx.3_Splice_Site_p.G1421_splice|KIAA1217_uc001iry.3_Splice_Site_p.G862_splice	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1738					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCTTCCCACAGGGCTCCAGC	0.602000														98			74		0	0	0.014410	0	0
ARGFX	503582	broad.mit.edu	37	3	121289622	121289622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:121289622C>T	uc003eef.3	+	1	157	c.62C>T	c.(61-63)tCc>tTc	p.S21F		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	21						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		AGGAATTATTCCAACATGAAG	0.478000														36			33		0	0	0.009718	0	0
FFAR1	2864	broad.mit.edu	37	19	35843008	35843008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:35843008G>A	uc002nzc.2	+	0	564	c.554G>A	c.(553-555)aGc>aAc	p.S185N		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	185					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GCCCGCTTCAGCCTCTCTCTC	0.682000														16			13		0	0	0.002450	0	0
HERC5	51191	broad.mit.edu	37	4	89421091	89421091	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:89421091T>A	uc003hrt.3	+	18	2612	c.2459T>A	c.(2458-2460)cTt>cAt	p.L820H	HERC5_uc011cdm.2_Missense_Mutation_p.L458H	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	820	HECT.				ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTGCAAACACTTCTGGATGAT	0.294000														39			30		0	0	0.012213	0	0
KIFC3	3801	broad.mit.edu	37	16	57803756	57803757	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:57803756_57803757GG>AA	uc002emq.3	-	7	1247_1248	c.1050_1051CC>TT	c.(1048-1053)gcccag>gcTTag	p.Q351*	KIFC3_uc010vhw.2_Nonsense_Mutation_p.Q249*|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Nonsense_Mutation_p.Q212*|KIFC3_uc010vhx.2_Nonsense_Mutation_p.Q212*|KIFC3_uc010cdf.3_Nonsense_Mutation_p.Q212*|KIFC3_uc002emo.4_Nonsense_Mutation_p.Q212*|KIFC3_uc010vhy.2_Nonsense_Mutation_p.Q293*|KIFC3_uc002emp.3_Nonsense_Mutation_p.Q351*|KIFC3_uc010vhz.2_Nonsense_Mutation_p.Q373*|KIFC3_uc002emr.1_Nonsense_Mutation_p.Q128*	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	351					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				ATCTCCACCTGGGCTCTGGCAA	0.644000														21			21		0	0	0.004672	0	0
PRKD2	25865	broad.mit.edu	37	19	47219569	47219569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:47219569G>A	uc002pfh.3	-	1	401	c.59C>T	c.(58-60)cCt>cTt	p.P20L	PRKD2_uc002pfg.3_5'Flank|PRKD2_uc002pfi.3_Missense_Mutation_p.P20L|PRKD2_uc002pfj.3_Missense_Mutation_p.P20L|PRKD2_uc010xye.2_Missense_Mutation_p.P20L|PRKD2_uc002pfk.3_Intron	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	20					T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGGGGGCGGAGGAGACCCCGG	0.761000														16			10		0	0	0.008291	0	0
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:31317540C>T	uc003jhe.2	+	9	1931	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_uc003jhd.2_Missense_Mutation_p.S524L	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403000														40			27		0	0	0.006320	0	0
PCDH15	65217	broad.mit.edu	37	10	55755479	55755479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:55755479C>T	uc010qhy.1	-	21	3208	c.2813G>A	c.(2812-2814)gGg>gAg	p.G938E	PCDH15_uc010qhq.2_Missense_Mutation_p.G938E|PCDH15_uc010qhr.2_Missense_Mutation_p.G933E|PCDH15_uc021pqv.1_Missense_Mutation_p.G933E|PCDH15_uc021pqw.1_Missense_Mutation_p.G945E|PCDH15_uc010qht.2_Missense_Mutation_p.G940E|PCDH15_uc021pqx.1_Missense_Mutation_p.G933E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G933E|PCDH15_uc021pqz.1_Missense_Mutation_p.G911E|PCDH15_uc010qhv.1_Missense_Mutation_p.G933E|PCDH15_uc010qhw.1_Missense_Mutation_p.G896E|PCDH15_uc010qhx.1_Missense_Mutation_p.G862E|PCDH15_uc010qhz.1_Missense_Mutation_p.G933E|PCDH15_uc010qia.1_Missense_Mutation_p.G911E|PCDH15_uc001jju.1_Missense_Mutation_p.G933E|PCDH15_uc010qib.1_Missense_Mutation_p.G911E|PCDH15_uc001jjw.3_Missense_Mutation_p.G933E	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	933	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCCACCATCCCTTTGTATAT	0.398000										HNSCC(58;0.16)				26			22		0	0	0.010504	0	0
UPF1	5976	broad.mit.edu	37	19	18971159	18971159	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:18971159C>T	uc002nkg.3	+	15	2520	c.2245C>T	c.(2245-2247)Cag>Tag	p.Q749*	UPF1_uc002nkf.3_Nonsense_Mutation_p.Q738*|UPF1_uc002nkh.3_5'UTR	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	749					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ATTTGACTTCCAGTGGCCCCA	0.552000														86			63		0	0	0.014410	0	0
NEB	4703	broad.mit.edu	37	2	152501044	152501044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:152501044C>T	uc021vrb.1	-	53	7611	c.7582G>A	c.(7582-7584)Gat>Aat	p.D2528N	NEB_uc002txu.3_Missense_Mutation_p.D2528N|NEB_uc021vrc.1_Missense_Mutation_p.D2528N|NEB_uc010fnx.3_Missense_Mutation_p.D2528N|NEB_uc021vrd.1_Missense_Mutation_p.D2528N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2528					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAGGAAGATCGTAACCTTTT	0.388000														44			41		0	0	0.010771	0	0
COPA	1314	broad.mit.edu	37	1	160261985	160261985	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:160261985C>T	uc001fvv.4	-	28	3385	c.2991G>A	c.(2989-2991)aaG>aaA	p.K997K	COPA_uc009wti.3_Silent_p.K988K	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	988					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCTGCATCCTTCCTGGAAA	0.498000														98			197		0	0	0.014410	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50455624	50455624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:50455624C>T	uc010ybh.2	-	8	1770	c.1679G>A	c.(1678-1680)gGc>gAc	p.G560D	SIGLEC11_uc010ybi.2_Missense_Mutation_p.G464D	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	560					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGCCCCCAGGCCAAGTCCTCC	0.657000														38			27		0	0	0.007291	0	0
ACTL8	81569	broad.mit.edu	37	1	18152851	18152851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:18152851G>A	uc001bat.3	+	2	1154	c.938G>A	c.(937-939)aGg>aAg	p.R313K		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	313						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGCCTGTTCAGGGAGCTGATG	0.617000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			35		0	0	0.010771	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228679	57228679	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:57228679C>T	uc010lyk.1	-	1	866	c.228G>A	c.(226-228)ggG>ggA	p.G76G	SDR16C5_uc003xsy.1_Silent_p.G76G|SDR16C5_uc010lyl.1_Silent_p.G76G	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	76					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.E75K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTTCCTCATTCCCCTCCTTAT	0.522000														58			47		0	0	0.013114	0	0
DSCAM	1826	broad.mit.edu	37	21	41741060	41741060	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:41741060C>T	uc002yyq.1	-	3	1073	c.621G>A	c.(619-621)acG>acA	p.T207T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	207	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.T207T(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCTCTGCCTCGTCTCTCCGG	0.448000														38			18		0	0	0.008871	0	0
VSTM4	196740	broad.mit.edu	37	10	50255061	50255061	+	Silent	SNP	C	T	T	rs142214220	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:50255061C>T	uc001jhf.2	-	6	833	c.804G>A	c.(802-804)ccG>ccA	p.P268P		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	268						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TCAGCAGCTTCGGTTTATGGA	0.473000														149			98		0	0	0.014410	0	0
LMAN1	3998	broad.mit.edu	37	18	56998729	56998729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:56998729G>A	uc002lhz.3	-	11	1449	c.1417C>T	c.(1417-1419)Cca>Tca	p.P473S		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	473					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AAACATGATGGAAATGGTGGT	0.343000														42			17		0	0	0.007413	0	0
LOC646214	646214	broad.mit.edu	37	15	21938081	21938081	+	RNA	SNP	C	T	T	rs113837443	by1000genomes	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:21938081C>T	uc010tzj.1	-	0		c.2659G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CTCATTCGCACGGGAGGTGCT	0.512000														228			46		0	0	0.014410	0	0
FLII	2314	broad.mit.edu	37	17	18160274	18160274	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:18160274G>A	uc002gsr.1	-	1	174	c.123C>T	c.(121-123)aaC>aaT	p.N41N	FLII_uc002gsq.1_5'Flank|FLII_uc010vxn.1_Silent_p.N10N|FLII_uc010vxo.1_Silent_p.N41N|FLII_uc002gss.1_Silent_p.N41N	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	41	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GGCCAGTGCGGTTCAGCTTCA	0.647000														18			5		0	0	0.003080	0	0
LAMA5	3911	broad.mit.edu	37	20	60910129	60910129	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:60910129G>A	uc002ycq.3	-	19	2497	c.2430C>T	c.(2428-2430)tcC>tcT	p.S810S	LAMA5_uc021wfw.1_Silent_p.S810S|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	810	Laminin EGF-like 10.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATCCTTGCAGGACGCGCAGG	0.667000														31			22		0	0	0.003330	0	0
PDE12	201626	broad.mit.edu	37	3	57543412	57543412	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:57543412C>T	uc003diw.4	+	0	1432	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	PDE12_uc003div.3_Nonsense_Mutation_p.Q436*	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	436							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TTCTGTTCTTCAGGTAAAGTA	0.512000														27			24		0	0	0.003330	0	0
POLR3B	55703	broad.mit.edu	37	12	106889893	106889893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:106889893C>T	uc001tlp.3	+	23	2996	c.2774C>T	c.(2773-2775)cCg>cTg	p.P925L	POLR3B_uc001tlq.3_Missense_Mutation_p.P867L	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	925					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGCATCTGTCCGGACATCATC	0.493000														87			50		0	0	0.014410	0	0
ALDH1A3	220	broad.mit.edu	37	15	101427813	101427813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:101427813G>A	uc002bwn.4	+	2	345	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	ALDH1A3_uc010bpb.3_Missense_Mutation_p.A81T	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	81					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	TGCACAGGTTGCCTTCCAGAG	0.627000														70			56		0	0	0.014410	0	0
TTC39A	22996	broad.mit.edu	37	1	51754542	51754542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:51754542C>T	uc001csl.3	-	16	1792	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K	TTC39A_uc001csk.3_Missense_Mutation_p.E528K|TTC39A_uc010ond.2_Missense_Mutation_p.E500K|TTC39A_uc010one.2_Missense_Mutation_p.E527K|TTC39A_uc010onf.2_Missense_Mutation_p.E531K|TTC39A_uc001csj.3_Missense_Mutation_p.E164K	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	563							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						ATGGCCTCTTCGTTTCTGTCT	0.502000														7			8		0	0	0.003080	0	0
GPR98	84059	broad.mit.edu	37	5	89979669	89979669	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:89979669G>A	uc003kju.3	+	27	6027	c.5931G>A	c.(5929-5931)ggG>ggA	p.G1977G	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1977					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCCATATGGGATATTCATTT	0.398000														26			17		0	0	0.006122	0	0
FSD2	123722	broad.mit.edu	37	15	83440853	83440853	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:83440853C>T	uc002bjd.2	-	6	1406	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	FSD2_uc010uol.1_Silent_p.Q413Q|FSD2_uc010uom.1_Silent_p.Q413Q	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	413	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GTGAGCTGTCCTGCACTGGCC	0.612000														10			12		0	0	0.001855	0	0
NBAS	51594	broad.mit.edu	37	2	15307200	15307200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:15307200G>A	uc002rcc.1	-	51	7114	c.7088C>T	c.(7087-7089)gCc>gTc	p.A2363V	NBAS_uc002rcb.1_Missense_Mutation_p.A203V|NBAS_uc010exl.1_Missense_Mutation_p.A1435V|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2363										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCGCGGAGGGCTGTACTGAA	0.612000														40			30		0	0	0.010818	0	0
C6	729	broad.mit.edu	37	5	41161948	41161948	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:41161948C>T	uc003jmk.2	-	9	1515	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	C6_uc003jml.1_Silent_p.Q435Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	435	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTCTGCTCCCTGTATAAATG	0.398000														21			25		0	0	0.004656	0	0
KLHDC4	54758	broad.mit.edu	37	16	87744986	87744986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:87744986G>A	uc002fki.3	-	8	1001	c.899C>T	c.(898-900)tCc>tTc	p.S300F	KLHDC4_uc002fkh.1_5'Flank|KLHDC4_uc010cht.2_Missense_Mutation_p.S119F|KLHDC4_uc002fkj.3_Missense_Mutation_p.S269F|KLHDC4_uc002fkl.3_Missense_Mutation_p.S243F|KLHDC4_uc010chu.1_Missense_Mutation_p.S119F	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	300										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CATGGCCACGGAAAAGCCAGA	0.557000														26			28		0	0	0.010818	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146659	70146659	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:70146659C>T	uc003hej.3	+	0	443	c.441C>T	c.(439-441)atC>atT	p.I147I	UGT2B28_uc010ihr.3_Silent_p.I147I	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	147					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GATTTGACATCATTTTTGCAG	0.368000														63			30		0	0	0.008361	0	0
MYO16	23026	broad.mit.edu	37	13	109793523	109793523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:109793523C>T	uc010agk.2	+	31	5585	c.4963C>T	c.(4963-4965)Ccc>Tcc	p.P1655S	MYO16_uc001vqt.1_Missense_Mutation_p.P1633S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1633	Pro-rich.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGCTCCTTCCCCAAGATCCC	0.716000														19			13		0	0	0.004007	0	0
CCDC14	64770	broad.mit.edu	37	3	123634533	123634533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:123634533G>A	uc011bjx.2	-	12	2046	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	CCDC14_uc003egv.4_Missense_Mutation_p.S293F|CCDC14_uc003egx.4_Missense_Mutation_p.S452F|CCDC14_uc010hrt.3_Missense_Mutation_p.S611F|CCDC14_uc003egy.4_Missense_Mutation_p.S452F|CCDC14_uc003egz.2_Intron	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	652						centrosome		p.S652N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTAAGATCGGAGAGAAGCTT	0.383000														79			44		0	0	0.014410	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318427	30318427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:30318427C>T	uc009xle.2	-	2	787	c.650G>A	c.(649-651)gGa>gAa	p.G217E	KIAA1462_uc001iux.3_Missense_Mutation_p.G217E|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G79E	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	217										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CACATGTTCTCCTTGAATGAA	0.483000														97			57		0	0	0.014410	0	0
DNAH10	196385	broad.mit.edu	37	12	124315175	124315175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:124315175G>A	uc001uft.4	+	24	4145	c.4120G>A	c.(4120-4122)Gaa>Aaa	p.E1374K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1374	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTTTGCTATGGAACTGCACAA	0.403000														32			26		0	0	0.003330	0	0
DNAH2	146754	broad.mit.edu	37	17	7691242	7691242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7691242G>A	uc002giu.1	+	41	6682	c.6668G>A	c.(6667-6669)gGg>gAg	p.G2223E		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2223	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCGCTGCGGGATGGTCTAC	0.527000														36			24		0	0	0.002780	0	0
E2F1	1869	broad.mit.edu	37	20	32267568	32267568	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:32267568G>A	uc002wzu.4	-	2	705	c.565C>T	c.(565-567)Cag>Tag	p.Q189*		NM_005225	NP_005216	Q01094	E2F1_HUMAN	Homo sapiens E2F transcription factor 1 (E2F1), mRNA.	189					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|apoptosis|cell proliferation|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	Rb-E2F complex|mitochondrion	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TACAGCCACTGGATGTGGTTC	0.597000														39			31		0	0	0.005524	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140763816	140763816	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140763816C>T	uc003lka.2	+	0	1350	c.1350C>T	c.(1348-1350)ccC>ccT	p.P450P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Silent_p.P450P	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	452	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAACCCACCCACCTTCCCCC	0.512000														33			15		0	0	0.004990	0	0
CD300E	342510	broad.mit.edu	37	17	72613400	72613400	+	Missense_Mutation	SNP	G	A	A	rs148103699		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:72613400G>A	uc002jlb.2	-	1	382	c.245C>T	c.(244-246)cCg>cTg	p.P82L		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	82	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGAGCCTCCGGGTGGTCTCT	0.537000														61			78		0	0	0.014410	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507480	74507480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:74507480G>A	uc001dfy.4	-	6	1327	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	379								p.P379fs*26(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GGATATGCAGGAAAAAAATGT	0.353000														37			23		0	0	0.004656	0	0
MCM3	4172	broad.mit.edu	37	6	52143544	52143544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:52143544G>A	uc003pan.1	-	5	985	c.875C>T	c.(874-876)tCc>tTc	p.S292F	MCM3_uc011dwu.1_Missense_Mutation_p.S246F	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	292					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCAGACCTTGGATCGGGTTTT	0.438000														36			33		0	0	0.006230	0	0
POR	5447	broad.mit.edu	37	7	75583414	75583414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:75583414C>T	uc003udy.3	+	1	186	c.104C>T	c.(103-105)tCg>tTg	p.S35L		NM_000941	NP_000932	P16435	NCPR_HUMAN	Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA.	32					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	NADPH-hemoprotein reductase activity|iron ion binding			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ATTCTGTTTTCGCTCATCGTG	0.502000														9			6		0	0	0.001984	0	0
DDX50	79009	broad.mit.edu	37	10	70670829	70670830	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:70670829_70670830GG>AA	uc001jou.3	+	3	573_574	c.466_467GG>AA	c.(466-468)ggg>AAg	p.G156K	DDX50_uc001jot.3_Missense_Mutation_p.G156K	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	156						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TACAGGTCGAGGGGTAACATAT	0.322000														60			29		0	0	0.004672	0	0
C11orf74	119710	broad.mit.edu	37	11	36631725	36631725	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:36631725C>T	uc001mwy.1	+	1	145	c.72C>T	c.(70-72)ttC>ttT	p.F24F	C11orf74_uc001mwx.1_Non-coding_Transcript|C11orf74_uc001mwz.1_Silent_p.F24F|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript	NM_138787	NP_620142	Q86VG3	CK074_HUMAN	Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA.	24										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				TGGATAAATTCCTTAATTGTC	0.358000														29			18		0	0	0.007413	0	0
F13B	2165	broad.mit.edu	37	1	197021920	197021920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:197021920C>T	uc001gtt.1	-	8	1443	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	467	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CACTTCATTTCTATGTTATTT	0.303000														134			24		0	0	0.002780	0	0
FAM47A	158724	broad.mit.edu	37	X	34149531	34149531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:34149531C>T	uc004ddg.3	-	0	917	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	289								p.E289K(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCTGTGGGTTCGTCAGTTGTC	0.572000														3			15		0	0	0.002450	0	0
MKKS	8195	broad.mit.edu	37	20	10393632	10393632	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:10393632C>T	uc002wnt.1	-	2	1418	c.531G>A	c.(529-531)ttG>ttA	p.L177L	MKKS_uc002wnu.1_Silent_p.L177L|MKKS_uc010zrd.1_Intron	NM_018848	NP_740754	Q9NPJ1	MKKS_HUMAN	Homo sapiens McKusick-Kaufman syndrome (MKKS), transcript variant 1, mRNA.	177					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						CTCTCAGGATCAAAGCACTGA	0.383000														35			22		0	0	0.002780	0	0
PNMT	5409	broad.mit.edu	37	17	37826577	37826577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:37826577C>T	uc002hsi.1	+	2	1006	c.784C>T	c.(784-786)Ctt>Ttt	p.L262F		NM_002686	NP_002677	P11086	PNMT_HUMAN	Homo sapiens phenylethanolamine N-methyltransferase (PNMT), mRNA.	262					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCTGCCCACCTTCAGACAGG	0.632000														14			10		0	0	0.010729	0	0
LOC100132247	0	broad.mit.edu	37	16	21854860	21854860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:21854860G>A	uc002djr.3	-	5	574	c.392C>T	c.(391-393)tCc>tTc	p.S131F	LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Missense_Mutation_p.S112F|LOC100132247_uc010vbn.1_Missense_Mutation_p.S131F	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		TCCTCGAAAGGAAGAAACTCT	0.428000														427			54		0	0	0.014410	0	0
GRID2	2895	broad.mit.edu	37	4	94006221	94006221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:94006221C>T	uc011cdt.2	+	2	578	c.320C>T	c.(319-321)tCt>tTt	p.S107F	GRID2_uc010ikx.3_Missense_Mutation_p.S107F|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	107					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCCCTCCAGTCTTTGGCAGAC	0.537000														35			17		0	0	0.007413	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67487503	67487503	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:67487503G>A	uc010vjo.1	-	1	346	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ATP6V0D1_uc002ete.1_Silent_p.F82F|ATP6V0D1_uc010vjn.1_Silent_p.F5F	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	82					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TCATGTGGCGGAACTCCACCA	0.532000														34			28		0	0	0.007291	0	0
STRN	6801	broad.mit.edu	37	2	37076681	37076681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:37076681G>A	uc002rpn.3	-	17	2270	c.2261C>T	c.(2260-2262)tCg>tTg	p.S754L	STRN_uc010ezx.3_Missense_Mutation_p.S717L	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	754					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ATCATGAATCGATTCTTCAAA	0.393000														27			24		0	0	0.004656	0	0
AIM1	202	broad.mit.edu	37	6	106973044	106973044	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:106973044C>G	uc003prh.3	+	2	3970	c.3058C>G	c.(3058-3060)Cga>Gga	p.R1020G		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1020							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACTCAATCCCCGACCTGGAAA	0.368000														6			21		0	0	0.010504	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129015583	129015583	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:129015583A>T	uc003kvb.1	+	16	2615	c.2615A>T	c.(2614-2616)aAa>aTa	p.K872I	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	872	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATCTCTGCCAAAGGTCCTACT	0.428000														35			23		0	0	0.014323	0	0
RYR3	6263	broad.mit.edu	37	15	33895388	33895388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:33895388G>A	uc001zhi.3	+	17	2057	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	RYR3_uc010bar.3_Missense_Mutation_p.E663K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	663	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E663K(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGGTACTTCGAGCTGATTAT	0.567000														78			48		0	0	0.014410	0	0
FRAS1	80144	broad.mit.edu	37	4	79328974	79328974	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:79328974G>A	uc003hlb.2	+	30	4727	c.4287G>A	c.(4285-4287)caG>caA	p.Q1429Q	FRAS1_uc003hkw.3_Silent_p.Q1429Q	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1428					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCCAGCCCAGAGCGACTCCT	0.512000														16			15		0	0	0.003163	0	0
OR6C70	390327	broad.mit.edu	37	12	55863029	55863029	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:55863029G>A	uc010spn.2	-	0	894	c.894C>T	c.(892-894)gcC>gcT	p.A298A		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						CAGCTTTGAAGGCTTGTTTAA	0.328000														33			20		0	0	0.002780	0	0
HDHD3	81932	broad.mit.edu	37	9	116136008	116136008	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:116136008G>C	uc022bme.1	-	0	627	c.627C>G	c.(625-627)ttC>ttG	p.F209L	HDHD3_uc004bhi.1_Missense_Mutation_p.F209L|HDHD3_uc004bhk.3_Missense_Mutation_p.F209L	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	209							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CAACCACCAGGAAGCTGTGCA	0.587000														41			28		0	0	0.007291	0	0
SLC10A3	8273	broad.mit.edu	37	X	153717110	153717110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:153717110G>A	uc022cig.1	-	0	170	c.170C>T	c.(169-171)aCc>aTc	p.T57I	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.T57I|SLC10A3_uc004flq.3_Missense_Mutation_p.T57I|SLC10A3_uc004flp.3_Missense_Mutation_p.T57I	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	57					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGTGGCACGGTGTGACCCCC	0.612000														8			38		0	0	0.007835	0	0
C3	718	broad.mit.edu	37	19	6709731	6709731	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:6709731G>A	uc002mfm.3	-	13	1871	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	603			F -> V (in AHUS5).		G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TATTCAGCACGAACACGCCCT	0.617000														109			67		0	0	0.014410	0	0
CCDC141	285025	broad.mit.edu	37	2	179714790	179714790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179714790C>T	uc002une.2	-	20	3461	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K	CCDC141_uc002unf.1_Missense_Mutation_p.E594K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	540							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGTTTTTCTTCGAGCTCTGTG	0.323000														38			23		0	0	0.002780	0	0
RYR2	6262	broad.mit.edu	37	1	237778111	237778111	+	Nonsense_Mutation	SNP	C	T	T	rs79660660		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:237778111C>T	uc001hyl.1	+	36	5803	c.5683C>T	c.(5683-5685)Caa>Taa	p.Q1895*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1895	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGCCTGCTCCAAATGAAACT	0.483000														39			42		0	0	0.014410	0	0
NPAS4	266743	broad.mit.edu	37	11	66190649	66190649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:66190649G>A	uc001ohx.1	+	4	930	c.754G>A	c.(754-756)Gga>Aga	p.G252R	NPAS4_uc010rpc.1_Intron	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	252	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ATCATGGTATGGACTGCTGCA	0.542000														9			10		0	0	0.013537	0	0
DRD5	1816	broad.mit.edu	37	4	9784300	9784300	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:9784300A>G	uc003gmb.4	+	0	1043	c.647A>G	c.(646-648)aAc>aGc	p.N216S		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	216					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AATGCAGAGAACTGTGACTCC	0.592000														63			34		0	0	0.006999	0	0
CD163L1	283316	broad.mit.edu	37	12	7527122	7527122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:7527122C>T	uc010sge.2	-	12	3381	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	CD163L1_uc001qsy.3_Missense_Mutation_p.E1109K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1109	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAGTGGGACTCCATTCCTGTG	0.622000														42			30		0	0	0.010818	0	0
GABRQ	55879	broad.mit.edu	37	X	151818907	151818907	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:151818907G>A	uc004ffp.1	+	6	785	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	255						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ACATACGCCTGATACTGAAGT	0.517000														22			160		0	0	0.014410	0	0
EMR3	84658	broad.mit.edu	37	19	14740884	14740884	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:14740884G>A	uc002mzi.4	-	13	1927	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	EMR3_uc010dzp.3_Silent_p.F541F|EMR3_uc010xnv.2_Silent_p.F467F	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	593					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CCAAGAAGATGAAGAAGCCTT	0.493000														24			20		0	0	0.010504	0	0
ATP2B1	490	broad.mit.edu	37	12	90018085	90018085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:90018085C>T	uc001tbh.3	-	7	1400	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	ATP2B1_uc001tbg.3_Missense_Mutation_p.E407K|ATP2B1_uc001tbf.3_Missense_Mutation_p.E77K	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	407					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGTGTGCACTCAGCAAGCCAT	0.393000														32			15		0	0	0.006122	0	0
NLRP2	55655	broad.mit.edu	37	19	55496441	55496441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:55496441C>T	uc021vbq.1	+	6	2168	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	NLRP2_uc010yfp.2_Missense_Mutation_p.P663L|NLRP2_uc002qij.3_Missense_Mutation_p.P686L|NLRP2_uc010esp.3_Missense_Mutation_p.P664L|NLRP2_uc010esn.3_Missense_Mutation_p.P662L|NLRP2_uc010eso.3_Missense_Mutation_p.P683L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	686					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CACATGCTTCCTTTCTGGACG	0.453000														67			41		0	0	0.014410	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178770912	178770912	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:178770912G>A	uc003mjw.3	-	1	492	c.390C>T	c.(388-390)ctC>ctT	p.L130L	ADAMTS2_uc011dgm.2_Silent_p.L130L	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	130					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGCGCCACGAGGCGGGCGT	0.697000														12			15		0	0	0.002450	0	0
SOBP	55084	broad.mit.edu	37	6	107955660	107955660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:107955660C>T	uc003prx.3	+	5	2116	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	538	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGTGCCCATCCCCATCCCCAT	0.667000														4			12		0	0	0.006122	0	0
SCYL2	55681	broad.mit.edu	37	12	100707241	100707242	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:100707241_100707242GG>AA	uc001thn.3	+	6	944_945	c.894_895GG>AA	c.(892-897)gaggaa>gaAAaa	p.E299K	SCYL2_uc009ztw.1_Missense_Mutation_p.E126K|SCYL2_uc001thm.1_Missense_Mutation_p.E299K	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	299	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ATATACCTGAGGAAGTTCGTGA	0.327000														31			12		0	0	0.004672	0	0
EGF	1950	broad.mit.edu	37	4	110909835	110909835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:110909835G>A	uc003hzy.4	+	17	3156	c.2704G>A	c.(2704-2706)Ggc>Agc	p.G902S	EGF_uc011cfu.2_Missense_Mutation_p.G860S|EGF_uc011cfv.2_Missense_Mutation_p.G902S|EGF_uc010imk.3_Intron	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	902	EGF-like 7; calcium-binding (Potential).				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GTGCTCAGAAGGCTACCAAGG	0.547000														61			43		0	0	0.011902	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50463633	50463633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:50463633G>A	uc010ybh.2	-	2	597	c.506C>T	c.(505-507)cCc>cTc	p.P169L	SIGLEC11_uc010ybi.2_Missense_Mutation_p.P169L	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	169	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CGGCTGCCCGGGCTCCAGGGT	0.597000														18			20		0	0	0.010818	0	0
HECTD1	25831	broad.mit.edu	37	14	31578782	31578782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:31578782G>A	uc001wrc.1	-	35	6790	c.6301C>T	c.(6301-6303)Cga>Tga	p.R2101*	HECTD1_uc001wra.1_Nonsense_Mutation_p.R227*|HECTD1_uc001wrb.1_Nonsense_Mutation_p.R227*	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	2101	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCTTCACGTCGGTTCTGTAAC	0.433000														14			9		0	0	0.004482	0	0
MYH2	4620	broad.mit.edu	37	17	10429969	10429969	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10429969C>T	uc010coi.3	-	29	4262	c.4134G>A	c.(4132-4134)agG>agA	p.R1378R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1378R|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1378					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGTATTTGGTCCTCCATTGGG	0.542000														101			60		0	0	0.014410	0	0
OVOS2	0	broad.mit.edu	37	12	31286875	31286875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:31286875C>T	uc010sjy.1	-	18	2620	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TCCATTCCTTCATTTGGGCAA	0.393000														14			12		0	0	0.008871	0	0
NTN4	59277	broad.mit.edu	37	12	96104261	96104261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:96104261G>A	uc001tei.3	-	4	1587	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	NTN4_uc009ztf.3_Missense_Mutation_p.R380C|NTN4_uc009ztg.3_Missense_Mutation_p.R343C	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	380	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGCAGGTCACGATAGAAGCCT	0.488000														23			26		0	0	0.007291	0	0
BRD8	10902	broad.mit.edu	37	5	137485414	137485414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:137485414G>A	uc003lcf.1	-	22	3248	c.3193C>T	c.(3193-3195)Cct>Tct	p.P1065S		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1065					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCGCCTGAAGGGGGCTGGTCT	0.493000														41			11		0	0	0.008291	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29959832	29959832	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:29959832G>A	uc004dby.2	+	8	1630	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	374					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGTATGTTTGGTGACCATCT	0.408000														11			54		0	0	0.014410	0	0
MOV10L1	54456	broad.mit.edu	37	22	50563979	50563979	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:50563979G>A	uc003bjj.3	+	10	1811	c.1728G>A	c.(1726-1728)ggG>ggA	p.G576G	MOV10L1_uc003bjk.4_Silent_p.G576G|MOV10L1_uc011arp.2_Silent_p.G556G|MOV10L1_uc011arq.1_Silent_p.G337G|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	576					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGGCCGAAGGGAGGCCTTCTC	0.468000														40			23		0	0	0.003330	0	0
USHBP1	83878	broad.mit.edu	37	19	17373661	17373662	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:17373661_17373662CC>TT	uc002nfs.1	-	3	454_455	c.341_342GG>AA	c.(340-342)ggg>gAA	p.G114E	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.G50E|USHBP1_uc010eam.1_Missense_Mutation_p.G42E	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	114							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CATCGGGGGCCCCATTCCCAGG	0.663000														58			40		0	0	0.004672	0	0
TCRVA15	0	broad.mit.edu	37	14	22217917	22217917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:22217917G>A	uc010aiq.1	+	1	347	c.268G>A	c.(268-270)Gat>Aat	p.D90N	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Missense_Mutation_p.D86N					Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96.																		GAATAAAAAGGATAAACATCT	0.433000														40			26		0	0	0.003954	0	0
KIF12	113220	broad.mit.edu	37	9	116857352	116857352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:116857352C>T	uc004bif.3	-	7	894	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	352	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GCTTGCATATCGCAGGGTGCT	0.657000														23			13		0	0	0.001855	0	0
ENPP4	22875	broad.mit.edu	37	6	46107692	46107692	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:46107692G>A	uc003oxy.3	+	1	631	c.372G>A	c.(370-372)caG>caA	p.Q124Q		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	124						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TGACCAATCAGCTTCAGGAAA	0.418000														106			43		0	0	0.014410	0	0
NDNL2	56160	broad.mit.edu	37	15	29561830	29561830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:29561830G>A	uc001zco.3	-	0	191	c.80C>T	c.(79-81)cCc>cTc	p.P27L	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	Homo sapiens necdin-like 2 (NDNL2), mRNA.	27					regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGAAGCCCCGGGGTTTCCGCT	0.726000														5			6		0	0	0.001984	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206903358	206903358	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:206903358C>T	uc001hem.2	+	4	816	c.606C>T	c.(604-606)atC>atT	p.I202I	MAPKAPK2_uc001hel.2_Silent_p.I202I	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	202	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CCAACGCCATCCTGAAACTCA	0.493000														150			43		0	0	0.010771	0	0
ADCY8	114	broad.mit.edu	37	8	131916288	131916288	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:131916288C>T	uc003ytd.4	-	7	1897	c.1641_splice	c.e7-1	p.G547_splice	ADCY8_uc010mds.3_Splice_Site_p.G547_splice	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	547					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G547G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGTGAATCCTCCTGTGTGTAG	0.458000										HNSCC(32;0.087)				90			63		0	0	0.014410	0	0
FEN1	2237	broad.mit.edu	37	11	61563912	61563912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:61563912C>T	uc021qkj.1	+	0	1079	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	FEN1_uc001nsg.3_Missense_Mutation_p.P360L	NM_004111	NP_004102	P39748	FEN1_HUMAN	Homo sapiens flap structure-specific endonuclease 1 (FEN1), mRNA.	360					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|UV protection|base-excision repair|double-strand break repair|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GAGCCAGAACCCAAGGGATCC	0.522000								Editing and processing nucleases						13			5		0	0	0.000602	0	0
TAF1A	9015	broad.mit.edu	37	1	222734783	222734783	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:222734783C>G	uc009xdz.2	-	9	1372	c.1163G>C	c.(1162-1164)tGg>tCg	p.W388S	TAF1A_uc009xdy.1_Missense_Mutation_p.W79S|TAF1A_uc001hni.2_Missense_Mutation_p.W274S|TAF1A_uc001hnj.3_Missense_Mutation_p.W388S	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	388					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ACTTTTTGCCCAAAAGTAGCT	0.408000														464			341		0	0	0.014410	0	0
VPS13A	23230	broad.mit.edu	37	9	79933216	79933216	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:79933216C>T	uc004akr.3	+	40	5282	c.5022C>T	c.(5020-5022)acC>acT	p.T1674T	VPS13A_uc004akp.4_Silent_p.T1674T|VPS13A_uc004akq.4_Silent_p.T1674T|VPS13A_uc004aks.3_Silent_p.T1635T|VPS13A_uc004akt.3_Silent_p.T14T|VPS13A_uc010mpo.1_Silent_p.T270T	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1674					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTAAGGAAACCATCCCAGAAG	0.308000														58			24		0	0	0.006320	0	0
OR2G2	81470	broad.mit.edu	37	1	247752608	247752608	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:247752608T>A	uc010pyy.2	+	0	947	c.947T>A	c.(946-948)aTt>aAt	p.I316N		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGAGtaaatattttatgatta	0.328000														33			56		0	0	0.014410	0	0
GPR101	83550	broad.mit.edu	37	X	136113015	136113015	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:136113015C>T	uc011mwh.2	-	0	819	c.819G>A	c.(817-819)aaG>aaA	p.K273K		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	273						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TTCTGCCCTCCTTGGCCTTGA	0.577000														15			74		0	0	0.014410	0	0
COL27A1	85301	broad.mit.edu	37	9	117027228	117027228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:117027228C>T	uc011lxl.2	+	29	3274	c.3274C>T	c.(3274-3276)Ccg>Tcg	p.P1092S	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1092	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCAGGGCAGACCGGGCCGGCC	0.647000														42			30		0	0	0.003271	0	0
OR5M8	219484	broad.mit.edu	37	11	56258383	56258383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:56258383C>T	uc001nix.1	-	0	464	c.464G>A	c.(463-465)gGc>gAc	p.G155D	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CTCCATCAGGCCAGTGAGCGC	0.512000														38			31		0	0	0.007291	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163577	32163577	+	RNA	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:32163577C>T	uc002ecx.3	-	1		c.194G>A								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		GCACAGGCGACCATCGATGCC	0.592000														22			7		0	0	0.003080	0	0
OGDH	4967	broad.mit.edu	37	7	44747488	44747488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:44747488C>T	uc003tln.3	+	22	3121	c.2962C>T	c.(2962-2964)Cgg>Tgg	p.R988W	OGDH_uc011kbx.2_Missense_Mutation_p.R984W|OGDH_uc011kby.2_Missense_Mutation_p.R838W|OGDH_uc003tlp.3_Missense_Mutation_p.R999W|OGDH_uc011kbz.2_Missense_Mutation_p.R783W	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	988					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTATGCCGGCCGGGACCCAGC	0.647000														36			22		0	0	0.002780	0	0
EXD2	55218	broad.mit.edu	37	14	69695678	69695678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:69695678C>T	uc001xky.3	+	3	725	c.479C>T	c.(478-480)aCc>aTc	p.T160I	EXD2_uc001xkt.3_Missense_Mutation_p.T35I|EXD2_uc001xkv.3_Missense_Mutation_p.T160I|EXD2_uc001xkw.3_Missense_Mutation_p.T35I|EXD2_uc001xku.3_5'UTR|EXD2_uc001xkx.3_Missense_Mutation_p.T35I|EXD2_uc010aqt.3_Missense_Mutation_p.T160I|EXD2_uc010tte.2_Missense_Mutation_p.T160I	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	35					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GCAGATGGCACCATTTTGAAA	0.517000														50			31		0	0	0.009535	0	0
MYH1	4619	broad.mit.edu	37	17	10398588	10398588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:10398588G>A	uc002gmo.3	-	35	5310	c.5216C>T	c.(5215-5217)tCc>tTc	p.S1739F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1739						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGATTTGGGAAATGTCTGT	0.433000														64			49		0	0	0.014410	0	0
OR51A4	401666	broad.mit.edu	37	11	4967648	4967648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:4967648C>T	uc010qys.2	-	0	683	c.683G>A	c.(682-684)gGa>gAa	p.G228E		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGCAATTCCCAGTACAGT	0.433000														31			20		0	0	0.008871	0	0
CORO2B	10391	broad.mit.edu	37	15	69007569	69007569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:69007569C>T	uc002arj.4	+	7	1180	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	CORO2B_uc021spj.1_Missense_Mutation_p.R291W|CORO2B_uc010bic.3_Missense_Mutation_p.R291W|CORO2B_uc002ark.3_Missense_Mutation_p.R63W	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	296					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGAAACATCCGGTACTACGA	0.607000														78			37		0	0	0.008740	0	0
LRRC27	80313	broad.mit.edu	37	10	134158143	134158143	+	Missense_Mutation	SNP	C	T	T	rs149563961	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:134158143C>T	uc010quw.1	+	4	737	c.542C>T	c.(541-543)cCa>cTa	p.P181L	LRRC27_uc001llf.2_Missense_Mutation_p.P181L|LRRC27_uc010quv.1_Missense_Mutation_p.P181L|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.P181L|LRRC27_uc001llj.2_Missense_Mutation_p.P119L|LRRC27_uc001llk.4_Missense_Mutation_p.P54L	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	181										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCCAGAAATCCAACTTCTCAA	0.453000														40			29		0	0	0.006320	0	0
PTPRT	11122	broad.mit.edu	37	20	40790139	40790139	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:40790139G>A	uc002xkg.3	-	16	2719	c.2535C>T	c.(2533-2535)atC>atT	p.I845I	PTPRT_uc010ggj.3_Silent_p.I864I|PTPRT_uc010ggi.3_Silent_p.I48I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	845					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GATGAGTCTGGATCGTGAGGG	0.587000														36			28		0	0	0.009535	0	0
CD163L1	283316	broad.mit.edu	37	12	7531671	7531671	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:7531671G>A	uc010sge.2	-	8	2330	c.2304C>T	c.(2302-2304)ggC>ggT	p.G768G	CD163L1_uc001qsy.3_Silent_p.G758G	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	758	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.W767C(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCCAGTGCAGCCAGAATTCG	0.453000														46			51		0	0	0.014410	0	0
DSC2	1824	broad.mit.edu	37	18	28669485	28669485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:28669485G>A	uc002kwl.4	-	4	1001	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	DSC2_uc002kwk.4_Missense_Mutation_p.R183W	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	183	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.R183W(3)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AATAAATTCCGAGGTTCTTGG	0.378000														18			19		0	0	0.006122	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70674078	70674078	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:70674078C>A	uc003xyl.3	-	2	1647	c.940G>T	c.(940-942)Gca>Tca	p.A314S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.A314S|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.A314S|SLCO5A1_uc010lzc.2_Missense_Mutation_p.A314S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	314						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TATCCCACTGCAGGGCCAAGT	0.418000														19			20		1.40151e-16	1.49193e-16	0.010504	1	0
UGT1A1	54658	broad.mit.edu	37	2	234590995	234590995	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:234590995A>C	uc002vut.3	+	0	412	c.412A>C	c.(412-414)Aag>Cag	p.K138Q	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.K138Q	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	141					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGAATACTTAAAGGAGAGTTG	0.373000														87			60		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179474049	179474049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179474049C>T	uc021vsy.1	-	221	44509	c.44284G>A	c.(44284-44286)Gga>Aga	p.G14762R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8457R|TTN_uc021vta.1_Missense_Mutation_p.G8390R|TTN_uc021vtb.1_Missense_Mutation_p.G8265R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15689	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGATTCTCCCTTTTTGCTG	0.463000														27			12		0	0	0.002450	0	0
FSTL1	11167	broad.mit.edu	37	3	120121692	120121692	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:120121692G>A	uc003eds.3	-	8	943	c.768C>T	c.(766-768)gcC>gcT	p.A256A	FSTL1_uc011bjh.2_Silent_p.A221A	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	256	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		AATTTCCACAGGCACAGACAC	0.512000														62			32		0	0	0.003271	0	0
MYOCD	93649	broad.mit.edu	37	17	12639565	12639565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:12639565G>A	uc002gno.2	+	5	802	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	MYOCD_uc002gnn.2_Missense_Mutation_p.R168Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R72Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	168	HDAC5-binding (By similarity).				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.R168Q(2)|p.R168*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GATCAGACTCGAAGTGAAGAC	0.527000														109			83		0	0	0.014410	0	0
CRYBB2	1415	broad.mit.edu	37	22	25623912	25623912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:25623912G>A	uc003abp.1	+	3	314	c.266G>A	c.(265-267)cGa>cAa	p.R89Q		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	89	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						ACCAGCAGCCGAAGGACGGAC	0.592000														44			32		0	0	0.005524	0	0
HAL	3034	broad.mit.edu	37	12	96370260	96370260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:96370260G>A	uc001tem.1	-	19	2077	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	HAL_uc010sux.1_Intron|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.R386C	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	594					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GCCATGAAGCGATCTTTTATC	0.512000														43			32		0	0	0.009535	0	0
DEFB123	245936	broad.mit.edu	37	20	30037904	30037904	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:30037904T>A	uc002wvy.3	+	1	222	c.131T>A	c.(130-132)gTt>gAt	p.V44D		NM_153324	NP_697019	Q8N688	DB123_HUMAN	Homo sapiens defensin, beta 123 (DEFB123), mRNA.	44					defense response to bacterium	extracellular region				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGAGTCTATGTTTACTGCATA	0.433000														50			30		0	0	0.008361	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520670	33520670	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:33520670G>A	uc002hjd.2	-	0	743	c.657C>T	c.(655-657)ctC>ctT	p.L219L		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	219						integral to membrane											CCACTGTTGGGAGGCAGGGGG	0.627000														50			44		0	0	0.011902	0	0
FBXW7	55294	broad.mit.edu	37	4	153251903	153251903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:153251903C>T	uc003ims.3	-	6	1265	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	FBXW7_uc011cii.2_Missense_Mutation_p.G368E|FBXW7_uc003imt.3_Missense_Mutation_p.G368E|FBXW7_uc011cih.2_Missense_Mutation_p.G192E|FBXW7_uc003imq.3_Missense_Mutation_p.G288E|FBXW7_uc003imr.3_Missense_Mutation_p.G250E	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	368					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R367*(7)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTGAGTTCTCCTCGCCTCCA	0.388000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									88			5		0	0	0.001168	0	0
RNF157	114804	broad.mit.edu	37	17	74151745	74151745	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:74151745G>A	uc002jqz.3	-	14	1665	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V	RNF157_uc002jra.3_Silent_p.V532V|DQ570973_uc002jrb.1_Non-coding_Transcript	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	532	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACATGGAGGAGACGGTGTCAG	0.627000														21			9		0	0	0.004482	0	0
VCAN	1462	broad.mit.edu	37	5	82837907	82837907	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:82837907T>A	uc003kii.3	+	7	9441	c.9085T>A	c.(9085-9087)Tca>Aca	p.S3029T	VCAN_uc003kij.3_Missense_Mutation_p.S2042T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1693T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3029	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GATAGCAGCATCAGAACAGCA	0.458000														65			51		0	0	0.014410	0	0
TRIM2	23321	broad.mit.edu	37	4	154197099	154197100	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:154197099_154197100CC>TT	uc003inh.2	+	2	355_356	c.270_271CC>TT	c.(268-273)tgccgc>tgTTgc	p.R91C	TRIM2_uc003ing.2_Missense_Mutation_p.R64C|TRIM2_uc003ini.1_Missense_Mutation_p.R82C	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	64						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GCCCAGTGTGCCGCCAGACCTC	0.569000														33			29		0	0	0.004672	0	0
ZNF679	168417	broad.mit.edu	37	7	63726696	63726696	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:63726696A>G	uc003tsx.3	+	4	954	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AACCCTTTCTAAACATAAAAG	0.398000														12			7		0	0	0.001984	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445668	29445668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:29445668C>T	uc003aeg.3	+	7	1499	c.1499C>T	c.(1498-1500)cCt>cTt	p.P500L	ZNRF3_uc021wnq.1_Missense_Mutation_p.P400L	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	500						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGTGCCTTTCCTCCGAGCGGC	0.687000														15			13		0	0	0.002450	0	0
RNF157	114804	broad.mit.edu	37	17	74236267	74236267	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:74236267A>C	uc002jqz.3	-	0	124	c.55T>G	c.(55-57)Tct>Gct	p.S19A	RNF157_uc002jra.3_Missense_Mutation_p.S19A	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	19							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			ACGGAATTAGACGGGATGTCC	0.776000														15			4		0	0	0.009096	0	0
PRDM9	56979	broad.mit.edu	37	5	23522840	23522840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:23522840C>T	uc003jgo.3	+	7	910	c.728C>T	c.(727-729)cCc>cTc	p.P243L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	243					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCAGTCTGCCCCCAGGGCTG	0.572000										HNSCC(3;0.000094)				24			12		0	0	0.001855	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649459	75649459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:75649459C>T	uc004ecm.2	+	0	1414	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	379	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.S379S(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TCGGACACCTCCGTGCCGCCC	0.682000														2			11		0	0	0.008291	0	0
OR13C9	286362	broad.mit.edu	37	9	107380359	107380360	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:107380359_107380360CA>AT	uc011lvr.2	-	0	126_127	c.126_127TG>AT	c.(124-129)aatggt>aaATgt	p.42_43NG>KC		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ATGAGAGTACCATTCCCCAGAA	0.441000														52			24		0	0	0.004672	0	0
SENP7	57337	broad.mit.edu	37	3	101058952	101058952	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:101058952C>G	uc003dut.3	-	15	2455	c.2344G>C	c.(2344-2346)Gat>Cat	p.D782H	SENP7_uc003duu.3_Missense_Mutation_p.D717H|SENP7_uc003duv.3_Missense_Mutation_p.D749H|SENP7_uc003duw.3_Missense_Mutation_p.D716H|SENP7_uc003dux.3_Missense_Mutation_p.D618H	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	782	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGTAAAAATCAATGATTACA	0.299000														12			8		0	0	0.006214	0	0
TCERG1L	256536	broad.mit.edu	37	10	132944875	132944875	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:132944875C>T	uc001lkp.3	-	6	1169	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	361	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		ACAGGTGCATCGTTGGGTTGA	0.542000														25			14		0	0	0.004007	0	0
LIPH	200879	broad.mit.edu	37	3	185234907	185234907	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:185234907A>T	uc003fpm.3	-	6	1040	c.930T>A	c.(928-930)gaT>gaA	p.D310E	LIPH_uc010hyh.3_Missense_Mutation_p.D276E	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	310					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCATTGGAGGATCTTTCCCCC	0.383000														264			167		0	0	0.014410	0	0
EPG5	57724	broad.mit.edu	37	18	43435546	43435546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:43435546C>T	uc002lbm.3	-	42	7649	c.7549G>A	c.(7549-7551)Gct>Act	p.A2517T		NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2517					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ACCTGCTGAGCTTTGGGGGTC	0.522000														28			19		0	0	0.012319	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984229	223984229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:223984229G>A	uc001hod.3	-	13	2436	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	TP53BP2_uc010pvb.2_Missense_Mutation_p.S671F|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Missense_Mutation_p.S310F	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	665					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTGGCTATTGGAATAAATGTT	0.453000														66			148		0	0	0.014410	0	0
FOXO1	2308	broad.mit.edu	37	13	41134157	41134158	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:41134157_41134158CC>TT	uc001uxl.4	-	1	1855_1856	c.1470_1471GG>AA	c.(1468-1473)cgggtt>cgAAtt	p.V491I	FOXO1_uc010acc.1_Missense_Mutation_p.V306I	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	491					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TGGCCCAGAACCCGGCTGTTGG	0.530000														27			15		0	0	0.004672	0	0
CIITA	4261	broad.mit.edu	37	16	10995954	10995954	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:10995954A>C	uc002daj.4	+	6	677	c.544A>C	c.(544-546)Acc>Ccc	p.T182P	CIITA_uc002dai.4_Missense_Mutation_p.T181P|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.T181P|CIITA_uc002dah.2_Intron|CIITA_uc010bup.1_Missense_Mutation_p.T181P	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	181					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGACTGCTCCACCCTGCCCTG	0.617000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									76			10		0	0	0.005443	0	0
DROSHA	29102	broad.mit.edu	37	5	31410872	31410872	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:31410872G>A	uc003jhg.2	-	29	4007	c.3648C>T	c.(3646-3648)acC>acT	p.T1216T	DROSHA_uc003jhh.2_Silent_p.T1179T|DROSHA_uc003jhi.2_Silent_p.T1179T	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	1216	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGTCCGCCAAGGTCTTGGTGC	0.507000														73			49		0	0	0.014410	0	0
IL17F	112744	broad.mit.edu	37	6	52101880	52101880	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:52101880T>C	uc003pam.1	-	2	412	c.341A>G	c.(340-342)gAa>gGa	p.E114G	IL17F_uc003pal.1_Missense_Mutation_p.E60G	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	Homo sapiens interleukin 17F (IL17F), mRNA.	114					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GGAGATGTCTTCCTTTCCTTG	0.552000														42			20		0	0	0.008871	0	0
CPA4	51200	broad.mit.edu	37	7	129945666	129945666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:129945666G>A	uc003vpr.3	+	5	544	c.497G>A	c.(496-498)gGg>gAg	p.G166E	CPA4_uc011kpd.2_Missense_Mutation_p.G133E|CPA4_uc011kpe.2_Missense_Mutation_p.G62E	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	166					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTCAGCACTGGGAAAGGCGTG	0.562000														24			25		0	0	0.004656	0	0
DCLK2	166614	broad.mit.edu	37	4	151153563	151153563	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:151153563G>A	uc003ilo.4	+	9	2179	c.1425G>A	c.(1423-1425)gaG>gaA	p.E475E	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.E458E|DCLK2_uc003iln.4_Silent_p.E457E	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	458	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGTCGAGGAGATGGAAACAG	0.428000														116			92		0	0	0.014410	0	0
L2HGDH	79944	broad.mit.edu	37	14	50732175	50732175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:50732175G>A	uc001wxu.3	-	8	1176	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	L2HGDH_uc010tqn.2_Missense_Mutation_p.S366F|L2HGDH_uc010tqo.1_Missense_Mutation_p.S366F	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	366					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					AACTCCATAGGAAAAATTCTG	0.308000														16			13		0	0	0.002450	0	0
SKOR1	390598	broad.mit.edu	37	15	68119370	68119370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:68119370G>A	uc002aqy.1	+	2	1072	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	402					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CTTCCCTACGGCCTTCGGCCT	0.667000														27			29		0	0	0.012213	0	0
SIN3B	23309	broad.mit.edu	37	19	16974604	16974604	+	Silent	SNP	C	T	T	rs140663662		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:16974604C>T	uc002ney.2	+	10	1499	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	SIN3B_uc002nez.2_Silent_p.F460F|SIN3B_uc010xpi.1_Silent_p.F50F	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	492	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACGAGCGCTTCGAGGTGTGTG	0.617000														28			13		0	0	0.013537	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141301106	141301106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:141301106G>A	uc003yvh.2	-	11	2149	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	TRAPPC9_uc003yvj.2_Nonsense_Mutation_p.R614*|TRAPPC9_uc010mel.1_Nonsense_Mutation_p.R35*|TRAPPC9_uc003yvi.1_Nonsense_Mutation_p.R605*	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	614					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTTCAACTCGAAGTTCAAAC	0.373000														32			21		0	0	0.010504	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920179	155920179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:155920179G>A	uc001fmu.2	-	24	3185	c.2930C>T	c.(2929-2931)cCc>cTc	p.P977L	ARHGEF2_uc001fmq.2_Missense_Mutation_p.P171L|ARHGEF2_uc001fmr.2_Missense_Mutation_p.P905L|ARHGEF2_uc001fms.2_Missense_Mutation_p.P932L|ARHGEF2_uc001fmt.2_Missense_Mutation_p.P933L	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	933					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGCTCTTCGGGGCTCCCCAG	0.627000														91			26		0	0	0.005443	0	0
TUBB6	84617	broad.mit.edu	37	18	12325866	12325866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:12325866G>A	uc002kqw.3	+	3	1113	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	TUBB6_uc002kqv.3_Missense_Mutation_p.G288S|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	360					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CCCGCCCCGCGGCCTGAAGAT	0.607000														112			74		0	0	0.014410	0	0
FAM179A	165186	broad.mit.edu	37	2	29222116	29222116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:29222116G>A	uc010ezl.3	+	3	560	c.209G>A	c.(208-210)gGa>gAa	p.G70E	FAM179A_uc010ymm.2_Missense_Mutation_p.G70E	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	70							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTGGACTCGGACAGCTGGGT	0.627000														19			11		0	0	0.001855	0	0
ANKRD40	91369	broad.mit.edu	37	17	48778020	48778020	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:48778020T>A	uc002iso.3	-	1	447	c.192A>T	c.(190-192)ttA>ttT	p.L64F		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.	64										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			CTCCTGATTTTAACAGGTAAG	0.398000														49			50		0	0	0.014410	0	0
DHX34	9704	broad.mit.edu	37	19	47856689	47856689	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:47856689C>T	uc010xyn.2	+	1	751	c.402C>T	c.(400-402)cgC>cgT	p.R134R	DHX34_uc010elc.1_Silent_p.R134R	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	134						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CTGAGTTCCGCCGAGCCCTGT	0.647000														38			34		0	0	0.003271	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279891	32279891	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:32279891C>T	uc001bts.1	-	1	1102	c.1044G>A	c.(1042-1044)cgG>cgA	p.R348R	SPOCD1_uc001btu.3_Silent_p.R348R|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	348					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CGCTGCCAGTCCGCACGACAC	0.642000														9			11		0	0	0.013537	0	0
ALK	238	broad.mit.edu	37	2	29451801	29451801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:29451801C>T	uc002rmy.3	-	15	3716	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	922	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCACCCCCTCCGAAACCCCCT	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					20			12		0	0	0.013537	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051340	38051340	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:38051340C>T	uc003gtb.3	+	10	2089	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	TBC1D1_uc011byd.2_Silent_p.L577L|TBC1D1_uc010ifd.3_Silent_p.L324L|TBC1D1_uc011byf.1_Silent_p.L448L	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	577						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGAGTCATCTCCCAGAAGAGC	0.592000														41			35		0	0	0.003271	0	0
PTRH2	51651	broad.mit.edu	37	17	57775240	57775240	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:57775240G>A	uc002ixt.3	-	1	225	c.100C>T	c.(100-102)Cga>Tga	p.R34*	PTRH2_uc002ixs.3_Non-coding_Transcript	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), nuclear gene encoding mitochondrial protein, mRNA.	34					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAGCATACTCGAAGGCTCCAG	0.512000														37			14		0	0	0.003163	0	0
MACC1	346389	broad.mit.edu	37	7	20193832	20193832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:20193832C>T	uc003sus.4	-	5	2639	c.2330G>A	c.(2329-2331)gGa>gAa	p.G777E	MACC1_uc010kug.3_Missense_Mutation_p.G777E	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	777					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGCAACATCTCCAGTGTTTCC	0.408000														42			31		0	0	0.013726	0	0
MAP6	4135	broad.mit.edu	37	11	75299100	75299100	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:75299100C>T	uc001owu.3	-	3	1511	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	482						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CTTGCTTCTTCAGAGGCTCTT	0.522000														24			58		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179407083	179407083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179407083C>T	uc021vsy.1	-	297	89921	c.89696G>A	c.(89695-89697)gGa>gAa	p.G29899E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G23594E|TTN_uc021vta.1_Missense_Mutation_p.G23527E|TTN_uc021vtb.1_Missense_Mutation_p.G23402E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30826	Fibronectin type-III 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTCATTTCCTTCGGTGAG	0.507000														18			13		0	0	0.001855	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323695	79323695	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:79323695G>A	uc010mpk.3	-	7	3619	c.3495C>T	c.(3493-3495)acC>acT	p.T1165T	PRUNE2_uc022bih.1_Silent_p.T987T	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1165					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGTAAATCGGGTTTCCGGCT	0.532000														66			45		0	0	0.014410	0	0
IL18R1	8809	broad.mit.edu	37	2	103011085	103011085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:103011085G>A	uc002tbw.4	+	9	1418	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	IL18R1_uc010ywd.2_Missense_Mutation_p.G267E|IL18R1_uc010fiy.3_Missense_Mutation_p.G423E|IL18R1_uc010ywc.2_Missense_Mutation_p.G422E	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	423	TIR.		G -> R (in dbSNP:rs12619169).		innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTGCCTGGAGGAGGTAAGAGG	0.408000														17			14		0	0	0.006122	0	0
FERMT1	55612	broad.mit.edu	37	20	6088183	6088183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:6088183G>A	uc002wmr.3	-	5	1634	c.845C>T	c.(844-846)cCt>cTt	p.P282L	FERMT1_uc010gbt.3_Missense_Mutation_p.P25L|FERMT1_uc002wms.3_Missense_Mutation_p.P282L|FERMT1_uc002wmt.3_Missense_Mutation_p.P25L	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	282	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTTACTTTAGGATTCAAGTC	0.353000														22			8		0	0	0.003080	0	0
TMEM26	219623	broad.mit.edu	37	10	63195962	63195962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:63195962G>A	uc001jlo.2	-	1	605	c.236C>T	c.(235-237)tCa>tTa	p.S79L	TMEM26_uc001jlq.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	79						integral to membrane		p.P78L(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AAGCCATAATGATGGAACGAT	0.343000														26			10		0	0	0.008291	0	0
TEX15	56154	broad.mit.edu	37	8	30704454	30704454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:30704454C>T	uc003xil.3	-	0	2080	c.2080G>A	c.(2080-2082)Gat>Aat	p.D694N		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	694										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTATGTGTATCTTGTTGAAAT	0.333000														35			16		0	0	0.006122	0	0
ZNF488	118738	broad.mit.edu	37	10	48371348	48371348	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:48371348C>T	uc001jex.3	+	1	978	c.816C>T	c.(814-816)tcC>tcT	p.S272S	ZNF488_uc021ppx.1_Silent_p.S272S	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TGGGCTTGTCCACCCAGAACT	0.617000														39			21		0	0	0.012319	0	0
CLVS2	134829	broad.mit.edu	37	6	123318986	123318986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:123318986G>A	uc003pzi.1	+	1	933	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	22					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGAGCTCAATGAAAACCCAGA	0.542000														7			21		0	0	0.010504	0	0
PKD1L1	168507	broad.mit.edu	37	7	47917094	47917094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:47917094C>T	uc003tny.2	-	21	3690	c.3656G>A	c.(3655-3657)gGa>gAa	p.G1219E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1219	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TACCGGTTTTCCAGACATGCA	0.577000														50			31		0	0	0.003755	0	0
MST1P2	11209	broad.mit.edu	37	1	16974549	16974549	+	RNA	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:16974549C>G	uc009vow.2	+	4		c.1359C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGGCTGAGTGCAGCGCCTGCT	0.692000														37			4		0	0	0.001984	0	0
HDAC9	9734	broad.mit.edu	37	7	18975549	18975549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:18975549C>T	uc003sui.3	+	21	2962	c.2921C>T	c.(2920-2922)gCc>gTc	p.A974V	HDAC9_uc003sue.3_Missense_Mutation_p.A971V|HDAC9_uc003suh.3_Missense_Mutation_p.A971V|HDAC9_uc003suj.3_Missense_Mutation_p.A930V|HDAC9_uc003suk.3_Missense_Mutation_p.A219V	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	971	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.A974V(3)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGTGTAAATGCCCTTCTAGGA	0.408000														60			49		0	0	0.014410	0	0
TMEM48	55706	broad.mit.edu	37	1	54258908	54258908	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:54258908G>A	uc001cvs.3	-	13	1920	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	TMEM48_uc010onu.2_Silent_p.F503F|TMEM48_uc001cvt.3_Silent_p.F420F|TMEM48_uc009vzk.3_Intron|TMEM48_uc010onv.2_Silent_p.F208F	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	543					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TTACCTTACTGAAAAAATACA	0.303000														53			45		0	0	0.014410	0	0
RAB5C	5878	broad.mit.edu	37	17	40280339	40280339	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:40280339G>A	uc010cxx.3	-	4	837	c.480C>T	c.(478-480)atC>atT	p.I160I	RAB5C_uc002hyz.3_Silent_p.I127I|RAB5C_uc002hza.3_Silent_p.I127I	NM_001252039	NP_001238968	P51148	RAB5C_HUMAN	Homo sapiens RAB5C, member RAS oncogene family (RAB5C), transcript variant 3, mRNA.	127					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTGCAATGACGATGTTGGGGC	0.567000														69			51		0	0	0.014410	0	0
C14orf80	283643	broad.mit.edu	37	14	105960205	105960205	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:105960205C>T	uc001yrm.3	+	4	746	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	C14orf80_uc001yrj.3_Intron|C14orf80_uc001yrk.3_Intron|C14orf80_uc001yrn.3_Nonsense_Mutation_p.Q207*|C14orf80_uc001yro.3_Intron|C14orf80_uc010tys.2_Nonsense_Mutation_p.Q29*	NM_001134875	NP_001128347	Q86SX3	CN080_HUMAN	Homo sapiens chromosome 14 open reading frame 80 (C14orf80), transcript variant 1, mRNA.	207										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		CCACAGCGACCAGAGCCTTAG	0.632000														11			7		0	0	0.010729	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512717	35512718	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:35512717_35512718CC>TT	uc010xsf.1	+	14	1717_1718	c.1717_1718CC>TT	c.(1717-1719)ccc>TTc	p.P573F	GRAMD1A_uc010xse.1_Missense_Mutation_p.P568F|GRAMD1A_uc002nxk.2_Missense_Mutation_p.P561F|GRAMD1A_uc002nxl.2_Missense_Mutation_p.P334F|GRAMD1A_uc002nxn.1_Missense_Mutation_p.P183F	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	568						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CGGGGACGGGCCCCAGCACCCA	0.718000														22			10		0	0	0.004672	0	0
SBK1	388228	broad.mit.edu	37	16	28328872	28328872	+	Missense_Mutation	SNP	G	A	A	rs140773263	by1000genomes	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:28328872G>A	uc002dpd.3	+	1	949	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	54	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CAAGCACTACGAACTAGTCCG	0.622000											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			18		0	0	0.007413	0	0
MYD88	4615	broad.mit.edu	37	3	38181467	38181467	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:38181467C>T	uc003chx.3	+	1	664	c.480C>T	c.(478-480)atC>atT	p.I160I	ACAA1_uc003cht.3_5'Flank|ACAA1_uc003chu.3_5'Flank|MYD88_uc011ayh.2_Silent_p.I160I|MYD88_uc011ayi.2_Silent_p.I160I|MYD88_uc011ayj.2_Silent_p.I160I|MYD88_uc011ayk.2_Intron|MYD88_uc011ayl.2_Intron	NM_001172567	NP_001166038	Q99836	MYD88_HUMAN	Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA.	147	TIR.				3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	TIR domain binding|death receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGCGGGCATCACCACACTTG	0.532000			Mis		ABC-DLBCL									19			15		0	0	0.003163	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576424	33576424	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:33576424A>G	uc003jia.1	-	18	3870	c.3707T>C	c.(3706-3708)gTt>gCt	p.V1236A	ADAMTS12_uc010iuq.1_Missense_Mutation_p.V1151A	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1236	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATCCCCTCAACTCTGGGTGT	0.577000										HNSCC(64;0.19)				54			42		0	0	0.007835	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194130	160194131	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:160194130_160194131GG>AA	uc002uao.3	-	31	6012_6013	c.5607_5608CC>TT	c.(5605-5610)ccccta>ccTTta	p.1869_1870PL>PL	BAZ2B_uc002uap.3_Silent_p.1833_1834PL>PL	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GCTATATCTAGGGGGTTGTCAC	0.431000														92			68		0	0	0.004672	0	0
EPB41L1	2036	broad.mit.edu	37	20	34778562	34778562	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:34778562C>T	uc002xfb.3	+	10	1314	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P	EPB41L1_uc002xeu.3_Silent_p.P319P|EPB41L1_uc010zvo.1_Silent_p.P381P|EPB41L1_uc002xev.3_Silent_p.P381P|EPB41L1_uc002xew.3_Silent_p.P284P|EPB41L1_uc002xex.3_Silent_p.P350P|EPB41L1_uc002xey.3_Silent_p.P308P|EPB41L1_uc002xez.3_Silent_p.P319P	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	381					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCCCTGAGCCCCCACCCAAGG	0.642000														30			20		0	0	0.014323	0	0
DIO1	1733	broad.mit.edu	37	1	54360021	54360021	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:54360021G>A	uc021onq.1	+	0	161	c.138G>A	c.(136-138)gaG>gaA	p.E46E	DIO1_uc021onp.1_Silent_p.E46E|DIO1_uc009vzl.3_Silent_p.E46E|DIO1_uc001cwb.3_Silent_p.E46E|DIO1_uc021onr.1_Silent_p.E46E|DIO1_uc001cwd.3_Non-coding_Transcript|DIO1_uc001cwe.3_Non-coding_Transcript|DIO1_uc001cwf.3_Non-coding_Transcript|DIO1_uc001cwg.3_Non-coding_Transcript	NM_000792	NP_001034804	P49895	IOD1_HUMAN	Homo sapiens deiodinase, iodothyronine, type I (DIO1), transcript variant 1, mRNA.	46					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CCATGGGCGAGAAGACGGGTA	0.527000														71			47		0	0	0.014410	0	0
PRPF31	26121	broad.mit.edu	37	19	54634798	54634798	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:54634798T>C	uc002qdh.2	+	13	1831	c.1435T>C	c.(1435-1437)Tat>Cat	p.Y479H	PRPF31_uc010yek.1_3'UTR|PRPF31_uc021vbi.1_3'UTR	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	479					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAACCAGAAGTATTTCTCCAG	0.562000														30			20		0	0	0.008871	0	0
DENND4B	9909	broad.mit.edu	37	1	153905487	153905487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:153905487G>A	uc001fdd.1	-	21	3874	c.3473C>T	c.(3472-3474)tCc>tTc	p.S1158F		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1158	Ser-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACGGCACAGGGAGCAGCTGGA	0.617000														104			35		0	0	0.007835	0	0
MYO19	80179	broad.mit.edu	37	17	34856752	34856752	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:34856752G>A	uc010wcy.2	-	23	3287	c.2295C>T	c.(2293-2295)gcC>gcT	p.A765A	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Silent_p.A565A	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	765	IQ 1.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGATGCAGCGGGCACACTGCT	0.672000														8			6		0	0	0.001168	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560508	44560508	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:44560508G>A	uc002lcr.1	-	0	1481	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	376					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGGGCTGCTCGAATTCCTCAG	0.507000														49			28		0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179433243	179433243	+	Silent	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179433243A>T	uc021vsy.1	-	274	70137	c.69912T>A	c.(69910-69912)gtT>gtA	p.V23304V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V16999V|TTN_uc021vta.1_Silent_p.V16932V|TTN_uc021vtb.1_Silent_p.V16807V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24231	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACATTGGCAACTGTGATTC	0.408000														42			37		0	0	0.003271	0	0
SND1	27044	broad.mit.edu	37	7	127344916	127344916	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:127344916C>T	uc003vmi.3	+	7	1090	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	288	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAGAGCTCCTCCTGAAGGAAG	0.502000														20			17		0	0	0.007413	0	0
ZFP3	124961	broad.mit.edu	37	17	4995940	4995940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:4995940C>T	uc002gaq.3	+	1	1266	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	ZFP3_uc021tog.1_Missense_Mutation_p.L381F	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CTCAGAACTTCTTAGACATGA	0.438000														27			19		0	0	0.008871	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508358	102508358	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:102508358C>T	uc001yks.2	+	65	12275	c.12111C>T	c.(12109-12111)ccC>ccT	p.P4037P		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4037	AAA 6 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGTGAAGCCCAACACTCCTG	0.507000														21			14		0	0	0.003163	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419115	65419115	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:65419115C>T	uc011kds.2	+	1	351	c.249C>T	c.(247-249)gtC>gtT	p.V83V	VKORC1L1_uc003tul.3_Missense_Mutation_p.S120L|VKORC1L1_uc003tum.1_5'Flank			Q8N0U8	VKORL_HUMAN	Homo sapiens vitamin K epoxide reductase complex, subunit 1-like 1 (VKORC1L1), mRNA.	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	TCCATCATGTCGGTCGTGGGG	0.542000														34			31		0	0	0.010818	0	0
CCDC146	57639	broad.mit.edu	37	7	76797119	76797119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:76797119C>T	uc003uga.3	+	1	261	c.134C>T	c.(133-135)cCa>cTa	p.P45L	CCDC146_uc003ufz.1_Missense_Mutation_p.P45L	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	45										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTGAAACTCCAGCTTTCATT	0.343000														64			8		0	0	0.013537	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187924	37187924	+	RNA	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:37187924C>G	uc002hrd.1	+	0		c.1766C>G								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		GGAGGTTGAACCTTTTCCAAC	0.483000														21			17		0	0	0.004990	0	0
EPHB2	2048	broad.mit.edu	37	1	23107967	23107967	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:23107967C>T	uc009vqj.1	+	1	260	c.115C>T	c.(115-117)Cct>Tct	p.P39S	EPHB2_uc001bge.3_Missense_Mutation_p.P39S|EPHB2_uc001bgf.3_Missense_Mutation_p.P39S|EPHB2_uc010odu.2_Missense_Mutation_p.P39S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	39					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GATGGTGCATCCTCCATCAGG	0.607000														24			8		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179458760	179458760	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179458760A>C	uc021vsy.1	-	245	50881	c.50656T>G	c.(50656-50658)Tcc>Gcc	p.S16886A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S10581A|TTN_uc021vta.1_Missense_Mutation_p.S10514A|TTN_uc021vtb.1_Missense_Mutation_p.S10389A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17813	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTGCCGGAATCTGAACGT	0.408000														94			44		0	0	0.009718	0	0
RNF139	11236	broad.mit.edu	37	8	125499402	125499402	+	Silent	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:125499402A>G	uc003yrc.3	+	1	1855	c.1512A>G	c.(1510-1512)gcA>gcG	p.A504A		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	Homo sapiens ring finger protein 139 (RNF139), mRNA.	504					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCTACATGCATATTTTAACA	0.348000														51			25		0	0	0.005443	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852170	20852170	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:20852170T>C	uc021xmt.1	-	2	404	c.284A>G	c.(283-285)aAg>aGg	p.K95R	KCNIP4_uc003gqe.2_Missense_Mutation_p.K78R|KCNIP4_uc003gqf.1_Missense_Mutation_p.K74R|KCNIP4_uc003gqg.1_Missense_Mutation_p.K33R|KCNIP4_uc003gqh.1_Missense_Mutation_p.K70R|KCNIP4_uc003gqi.1_Missense_Mutation_p.K33R|KCNIP4_uc021xmu.1_Missense_Mutation_p.K61R|KCNIP4_uc021xms.1_Missense_Mutation_p.K58R	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	95	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TCTTACATTCTTAAATCCTCT	0.443000														69			45		0	0	0.014410	0	0
PCDH15	65217	broad.mit.edu	37	10	55569295	55569295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:55569295C>T	uc021pqv.1	-	34	4593	c.4565G>A	c.(4564-4566)aGa>aAa	p.R1522K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqw.1_Silent_p.K1508K|PCDH15_uc010qht.2_Silent_p.K1503K|PCDH15_uc021pqx.1_Missense_Mutation_p.R1520K	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant J, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTAATTTTCTTTGGCTCTT	0.403000										HNSCC(58;0.16)				133			75		0	0	0.014410	0	0
KIT	3815	broad.mit.edu	37	4	55595626	55595626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:55595626C>T	uc010igr.3	+	13	2203	c.2116C>T	c.(2116-2118)Ctt>Ttt	p.L706F	KIT_uc010igs.3_Missense_Mutation_p.L702F|KIT_uc010igt.2_Missense_Mutation_p.L155F	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	706	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K704_N705del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTATAAGAATCTTCTGCATTC	0.373000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					50			38		0	0	0.004289	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261749	67261749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:67261749C>T	uc001olx.3	-	17	3014	c.2825G>A	c.(2824-2826)gGg>gAg	p.G942E	PITPNM1_uc001olw.3_Missense_Mutation_p.G224E|PITPNM1_uc001oly.3_Missense_Mutation_p.G942E|PITPNM1_uc001olz.3_Missense_Mutation_p.G941E	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	942					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTCCAGGGGCCCGTACATGAA	0.667000														26			15		0	0	0.003163	0	0
GNA15	2769	broad.mit.edu	37	19	3150255	3150255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:3150255G>A	uc002lxf.2	+	2	715	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	GNA15_uc010xhf.1_Missense_Mutation_p.E153K	NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	153					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GCGTCGGCGGGAATTCCACCT	0.657000														60			45		0	0	0.014410	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730326	15730326	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:15730326C>T	uc002nbi.3	+	3	433	c.369C>T	c.(367-369)gtC>gtT	p.V123V	CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	123					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						AGGACATAGTCTTCTACAAGA	0.542000														14			26		0	0	0.003271	0	0
TKTL2	84076	broad.mit.edu	37	4	164393635	164393635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:164393635C>T	uc003iqp.4	-	0	1413	c.1252G>A	c.(1252-1254)Ggt>Agt	p.G418S		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	418						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGTGGGAACCAATAAGGTTG	0.473000														25			7		0	0	0.001984	0	0
RAB22A	57403	broad.mit.edu	37	20	56934664	56934664	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:56934664C>T	uc002xyz.3	+	6	752	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	Homo sapiens RAB22A, member RAS oncogene family (RAB22A), mRNA.	164					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			TGGTTTAGGTCGAAGAATTCC	0.468000														21			28		0	0	0.008361	0	0
PCDH15	65217	broad.mit.edu	37	10	55587225	55587225	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:55587225A>G	uc010qhy.1	-	32	4705	c.4310T>C	c.(4309-4311)gTg>gCg	p.V1437A	PCDH15_uc010qhq.2_Missense_Mutation_p.V1437A|PCDH15_uc010qhr.2_Missense_Mutation_p.V1432A|PCDH15_uc021pqv.1_Missense_Mutation_p.V1432A|PCDH15_uc021pqw.1_Missense_Mutation_p.V1444A|PCDH15_uc010qht.2_Missense_Mutation_p.V1439A|PCDH15_uc021pqx.1_Missense_Mutation_p.V1432A|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.V1432A|PCDH15_uc021pqz.1_Missense_Mutation_p.V1407A|PCDH15_uc010qhv.1_Missense_Mutation_p.V1429A|PCDH15_uc010qhw.1_Missense_Mutation_p.V1392A|PCDH15_uc010qhx.1_Missense_Mutation_p.V1361A|PCDH15_uc010qhz.1_Missense_Mutation_p.V1432A|PCDH15_uc010qia.1_Missense_Mutation_p.V1410A|PCDH15_uc001jju.1_Missense_Mutation_p.V1432A|PCDH15_uc010qib.1_Missense_Mutation_p.V1407A	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1432	Poly-Pro.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.P1436S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gggcgCTGCCACTGGTGCAGG	0.577000										HNSCC(58;0.16)				26			25		0	0	0.005443	0	0
OR56A5	390084	broad.mit.edu	37	11	5988900	5988900	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:5988900G>A	uc010qzu.2	-	0	825	c.825C>T	c.(823-825)gtC>gtT	p.V275V		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	275						integral to membrane|plasma membrane	olfactory receptor activity										GCAGGATGGGGACATCCGGAG	0.517000														17			10		0	0	0.008291	0	0
SCN8A	6334	broad.mit.edu	37	12	52200631	52200631	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:52200631C>T	uc001ryw.3	+	26	5539	c.5361C>T	c.(5359-5361)acC>acT	p.T1787T	SCN8A_uc010snl.2_Silent_p.T1746T	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1787					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACTTTGAGACCTTCTATGAGA	0.498000														69			50		0	0	0.014410	0	0
LTBP1	4052	broad.mit.edu	37	2	33335741	33335741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:33335741G>A	uc021vft.1	+	3	979	c.956G>A	c.(955-957)gGg>gAg	p.G319E		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	319					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCCCAGAAGGGGATTTCAGGA	0.493000														51			61		0	0	0.014410	0	0
SERPINE3	647174	broad.mit.edu	37	13	51918420	51918420	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:51918420T>G	uc001vfh.2	+	1	349	c.289T>G	c.(289-291)Tat>Gat	p.Y97D	SERPINE3_uc010tgp.2_Missense_Mutation_p.Y97D	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	97					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						GCATGCTGTTTATGCCACACT	0.507000														29			13		0	0	0.003163	0	0
ACTN1	87	broad.mit.edu	37	14	69371391	69371391	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:69371391G>A	uc001xkl.3	-	6	967	c.657C>T	c.(655-657)ccC>ccT	p.P219P	ACTN1_uc010ttb.2_Silent_p.P154P|ACTN1_uc001xkm.3_Silent_p.P219P|ACTN1_uc001xkn.3_Silent_p.P219P|ACTN1_uc001xko.1_Silent_p.P154P|ACTN1_uc010ttd.1_Silent_p.P198P	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	219	Actin-binding.|CH 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGCATCTTGGGGATGTCCA	0.532000														35			20		0	0	0.003330	0	0
GABRA4	2557	broad.mit.edu	37	4	46979578	46979578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:46979578C>T	uc003gxg.3	-	3	1326	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	GABRA4_uc021xnz.1_Missense_Mutation_p.E96K|GABRA4_uc021xoa.1_Missense_Mutation_p.E96K	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	115					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAAAATTTCAATGGGGCCG	0.363000														38			30		0	0	0.013726	0	0
SDK1	221935	broad.mit.edu	37	7	4107559	4107559	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:4107559A>G	uc003smx.3	+	19	3140	c.3001A>G	c.(3001-3003)Atc>Gtc	p.I1001V	SDK1_uc010kso.3_Missense_Mutation_p.I277V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1001	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAAAAATGGCATCATTACTGG	0.448000														12			4		0	0	0.000602	0	0
CDC5L	988	broad.mit.edu	37	6	44397582	44397582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:44397582C>T	uc003oxl.3	+	13	2336	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	676					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGGCAGAGCCGCTACACACG	0.408000														71			31		0	0	0.010818	0	0
MTUS1	57509	broad.mit.edu	37	8	17513392	17513392	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:17513392T>C	uc003wxv.3	-	8	3562	c.3088A>G	c.(3088-3090)Aaa>Gaa	p.K1030E	MTUS1_uc003wxt.3_Missense_Mutation_p.K277E|MTUS1_uc011kyg.2_Missense_Mutation_p.K175E|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.K976E|MTUS1_uc003wxs.3_Missense_Mutation_p.K196E	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	1030						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AATTGCATTTTGTACTTCTCT	0.453000														45			34		0	0	0.005524	0	0
ITGA11	22801	broad.mit.edu	37	15	68649613	68649613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:68649613C>T	uc010bib.3	-	6	712	c.625G>A	c.(625-627)Gat>Aat	p.D209N	ITGA11_uc002ari.3_Missense_Mutation_p.D209N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	209	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TGCACCACATCTTCGCCATAC	0.502000														40			33		0	0	0.004878	0	0
NBAS	51594	broad.mit.edu	37	2	15432747	15432747	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:15432747G>A	uc002rcc.1	-	40	4967	c.4941C>T	c.(4939-4941)atC>atT	p.I1647I	NBAS_uc010exl.1_Silent_p.I719I|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1647										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCCTGAAGGATCTGCGCCT	0.507000														32			25		0	0	0.003330	0	0
PLCB1	23236	broad.mit.edu	37	20	8722119	8722119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:8722119G>A	uc002wnb.3	+	22	2425	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	PLCB1_uc010zrb.1_Missense_Mutation_p.E707K|PLCB1_uc002wna.3_Missense_Mutation_p.E808K|PLCB1_uc002wnc.1_Missense_Mutation_p.E707K|PLCB1_uc002wnd.1_Missense_Mutation_p.E385K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	808					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.E808K(2)|p.I807I(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGATGTCATCGAAGCTTTATC	0.383000														12			7		0	0	0.003080	0	0
MTMR11	10903	broad.mit.edu	37	1	149905831	149905831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:149905831G>A	uc001etl.4	-	7	939	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	MTMR11_uc001etm.2_Missense_Mutation_p.P158S|MTMR11_uc010pbm.1_Missense_Mutation_p.P202S|MTMR11_uc010pbn.1_Missense_Mutation_p.P72S	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	230	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AAGTAACGGGGGAGGCTGTGA	0.483000														89			90		0	0	0.014410	0	0
PCK1	5105	broad.mit.edu	37	20	56136663	56136663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:56136663C>T	uc002xyn.4	+	1	359	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	PCK1_uc010zzm.2_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	66					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGAGGGCATCCTCAGGCGGCT	0.612000														52			68		0	0	0.014410	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892500	72892500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:72892500G>A	uc003tyc.3	-	6	1643	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	431	Lys-rich.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGGTTTTAGGAGTCTTCAGT	0.483000														45			28		0	0	0.007291	0	0
MAPK4	5596	broad.mit.edu	37	18	48190835	48190835	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:48190835C>T	uc002lev.3	+	1	1507	c.507C>T	c.(505-507)ttC>ttT	p.F169F	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.F169F	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	169	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTGGGGATTTCGGGTTGGCAA	0.542000														49			32		0	0	0.003271	0	0
CIT	11113	broad.mit.edu	37	12	120128034	120128035	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:120128034_120128035GG>AA	uc001txj.2	-	46	6163_6164	c.6107_6108CC>TT	c.(6106-6108)ccc>cTT	p.P2036L	CIT_uc001txh.2_Missense_Mutation_p.P1512L|CIT_uc001txi.2_Missense_Mutation_p.P1994L	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1994					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAGCCTCCCGGGGGACCGCTC	0.703000														14			12		0	0	0.004672	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858274	54858274	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:54858274C>T	uc002rxu.3	+	15	3339	c.3090C>T	c.(3088-3090)gcC>gcT	p.A1030A	SPTBN1_uc002rxx.3_Silent_p.A1017A	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1030					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCGACCAGGCCCAGGCCATCC	0.637000														47			26		0	0	0.007291	0	0
FOXB1	27023	broad.mit.edu	37	15	60297359	60297359	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:60297359C>T	uc002agj.1	+	1	676	c.197C>T	c.(196-198)tCc>tTc	p.S66F	FOXB1_uc010bgh.1_Intron|FOXB1_uc021sna.1_Missense_Mutation_p.S66F	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	Homo sapiens forkhead box B1 (FOXB1), mRNA.	66					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CACAACCTCTCCTTCAACGAC	0.607000														56			36		0	0	0.005524	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454000	6454000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:6454000G>A	uc002mex.1	-	6	1037	c.895C>T	c.(895-897)Cct>Tct	p.P299S	SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Missense_Mutation_p.P116S	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	299					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ACCTCCATAGGGTAAATGATG	0.602000														25			10		0	0	0.013537	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678186	66678186	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:66678186C>T	uc002lkk.2	+	8	1502	c.1279C>T	c.(1279-1281)Caa>Taa	p.Q427*	CCDC102B_uc002lki.2_Nonsense_Mutation_p.Q427*	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	427								p.L426F(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACTGAACCTTCAACATGCCTA	0.323000														11			4		0	0	0.009096	0	0
HRNR	388697	broad.mit.edu	37	1	152195625	152195625	+	Silent	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:152195625T>C	uc001ezt.1	-	1	181	c.105A>G	c.(103-105)gaA>gaG	p.E35E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	35	EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCCAGAAGTTCTTTCAGCT	0.428000														97			54		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179497991	179497991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179497991G>A	uc021vsy.1	-	181	35530	c.35305C>T	c.(35305-35307)Cac>Tac	p.H11769Y	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H5464Y|TTN_uc021vta.1_Missense_Mutation_p.H5397Y|TTN_uc021vtb.1_Missense_Mutation_p.H5272Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12696	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCAAAGTGGGCTGTTTCA	0.413000														50			39		0	0	0.008740	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790788	194790788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:194790788G>A	uc003fum.4	-	3	946	c.838C>T	c.(838-840)Ccg>Tcg	p.P280S	XXYLT1_uc003ful.3_Missense_Mutation_p.P77S|XXYLT1_uc003fuk.3_Missense_Mutation_p.P74S	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Homo sapiens xyloside xylosyltransferase 1 (XXYLT1), mRNA.	280						integral to membrane	transferase activity, transferring glycosyl groups										TCGGGGGGCGGGCCCCCAACC	0.677000														41			31		0	0	0.003755	0	0
MAP3K9	4293	broad.mit.edu	37	14	71202744	71202744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:71202744G>A	uc001xmm.3	-	8	1847	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	MAP3K9_uc010ttk.2_Intron|MAP3K9_uc001xmk.3_Intron|MAP3K9_uc001xml.3_Missense_Mutation_p.S616F	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	616					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.G615A(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCTCTGAGGGGATCTTCAATG	0.493000														10			10		0	0	0.008291	0	0
DMXL1	1657	broad.mit.edu	37	5	118454697	118454697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:118454697G>A	uc010jcl.1	+	7	1112	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	DMXL1_uc003ksd.2_Missense_Mutation_p.E311K|DMXL1_uc021ycw.1_Missense_Mutation_p.E138K|DMXL1_uc003ksc.1_Missense_Mutation_p.E311K	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	311										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAATGCTTTAGAAGTGAGTGT	0.323000														14			7		0	0	0.003080	0	0
PRIC285	85441	broad.mit.edu	37	20	62202103	62202103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:62202103C>T	uc002yfm.2	-	2	1289	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	PRIC285_uc002yfl.1_5'Flank|PRIC285_uc002yfn.2_Missense_Mutation_p.G133R	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	133					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGCACCAGCCCGTCCTGCCAG	0.706000														8			10		0	0	0.006122	0	0
PREX2	80243	broad.mit.edu	37	8	68956771	68956771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:68956771C>T	uc003xxv.1	+	7	916	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	PREX2_uc003xxu.1_Missense_Mutation_p.R297C|PREX2_uc011lez.1_Missense_Mutation_p.R232C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R297H(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTACCTTTTTCGTGGCCGGAT	0.398000														65			37		0	0	0.006230	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364160	47364160	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:47364160C>T	uc021qis.1	-	16	1648	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	MYBPC3_uc021qir.1_Silent_p.G183G|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	530	Ig-like C2-type 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGCCTGGCCCCCGCTAGTGC	0.637000														15			10		0	0	0.006214	0	0
HTRA1	5654	broad.mit.edu	37	10	124266317	124266317	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:124266317C>T	uc001lgj.2	+	3	1016	c.888C>T	c.(886-888)atC>atT	p.I296I		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	296	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CCACCGGGATCGTGAGCACCA	0.617000														46			29		0	0	0.009535	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36558091	36558091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:36558091C>T	uc001bzt.3	+	4	823	c.770C>T	c.(769-771)tCg>tTg	p.S257L		NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA.	257						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GACCAGGCATCGGTGACCAGG	0.582000														49			22		0	0	0.006320	0	0
MYOM3	127294	broad.mit.edu	37	1	24398477	24398477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:24398477G>A	uc001bin.4	-	23	3158	c.2995C>T	c.(2995-2997)Cat>Tat	p.H999Y	MYOM3_uc001bim.4_Missense_Mutation_p.H656Y|MYOM3_uc001bio.3_Missense_Mutation_p.H999Y	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	999										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTGATCTCATGACTCAGCTTC	0.557000														34			35		0	0	0.007835	0	0
SLC9A6	10479	broad.mit.edu	37	X	135084286	135084286	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:135084286C>T	uc004ezk.3	+	5	889	c.813C>T	c.(811-813)ttC>ttT	p.F271F	SLC9A6_uc011mvx.2_Silent_p.F219F|SLC9A6_uc004ezj.3_Silent_p.F239F	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	239					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGCTATATTCCACGAGCTTC	0.373000														12			51		0	0	0.014410	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655116	46655116	+	Silent	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:46655116T>C	uc003bhh.3	-	0	4104	c.4104A>G	c.(4102-4104)aaA>aaG	p.K1368K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1368					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACATGTGGTTTTTCCGGAGAT	0.388000														45			36		0	0	0.004289	0	0
OR7G2	390882	broad.mit.edu	37	19	9213398	9213398	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:9213398G>A	uc010xkk.2	-	0	585	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGAAGAGCGGGATTTCCAGGT	0.478000														31			27		0	0	0.006320	0	0
HMMR	3161	broad.mit.edu	37	5	162902636	162902636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:162902636C>T	uc003lzh.3	+	10	1408	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F	HMMR_uc003lzf.3_Missense_Mutation_p.S408F|HMMR_uc003lzg.3_Missense_Mutation_p.S393F|HMMR_uc011dem.2_Missense_Mutation_p.S322F	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	408						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GAAGCAAAATCTAGAGCTGAA	0.353000														20			10		0	0	0.008291	0	0
TTC21A	199223	broad.mit.edu	37	3	39162558	39162558	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:39162558C>G	uc003cjc.2	+	8	1172	c.995C>G	c.(994-996)tCg>tGg	p.S332W	TTC21A_uc011ayx.1_Missense_Mutation_p.S283W|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	332							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCCACCCCCTCGTATGTCCAT	0.512000														35			26		0	0	0.006320	0	0
CSTF3	1479	broad.mit.edu	37	11	33123758	33123758	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:33123758A>T	uc001muh.3	-	9	957	c.791T>A	c.(790-792)cTt>cAt	p.L264H	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	264					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTCTGTACGAAGAGGGTTGCT	0.438000														38			27		0	0	0.010818	0	0
HRH1	3269	broad.mit.edu	37	3	11300881	11300882	+	Missense_Mutation	DNP	GG	AA	AA	rs61738990	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:11300881_11300882GG>AA	uc010hdr.3	+	1	500_501	c.158_159GG>AA	c.(157-159)cgg>cAA	p.R53Q	HRH1_uc010hds.3_Missense_Mutation_p.R53Q|HRH1_uc010hdt.3_Missense_Mutation_p.R53Q|HRH1_uc003bwb.4_Missense_Mutation_p.R53Q|HRH1_uc021wtb.1_Missense_Mutation_p.R53Q	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	53					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TATGCCGTACGGAGTGAGCGGA	0.594000														29			8		0	0	0.004672	0	0
TRAT1	50852	broad.mit.edu	37	3	108568015	108568015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:108568015C>T	uc003dxi.1	+	4	361	c.217C>T	c.(217-219)Cca>Tca	p.P73S	TRAT1_uc010hpx.1_Missense_Mutation_p.P36S	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	73					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTCCCAAGAACCAATGGATGA	0.328000														15			21		0	0	0.008871	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116185	129116185	+	RNA	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:129116185G>A	uc003eme.1	-	0		c.613C>T			RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron|RPL32P3_uc003emf.2_Non-coding_Transcript					Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA.											lung(1)	1						TGCGATCCCAGGAGGTCAAGG	0.547000														74			44		0	0	0.014410	0	0
KLHL8	57563	broad.mit.edu	37	4	88106875	88106875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:88106875G>A	uc011cdb.1	-	2	678	c.293C>T	c.(292-294)tCt>tTt	p.S98F	KLHL8_uc003hql.1_Missense_Mutation_p.S98F|KLHL8_uc003hqm.1_Intron|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	98	BTB.									breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGCCATTTCAGAAAGAAACAT	0.398000														13			5		0	0	0.001168	0	0
USP36	57602	broad.mit.edu	37	17	76823413	76823413	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:76823413G>A	uc002jvz.1	-	5	928	c.603C>T	c.(601-603)ttC>ttT	p.F201F	USP36_uc002jwa.1_Silent_p.F201F|USP36_uc002jwd.1_Silent_p.F201F	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	201					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCCCAAAGCGGAAGTGTCGGG	0.572000														24			4		0	0	0.000602	0	0
ADAM10	102	broad.mit.edu	37	15	58938315	58938315	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:58938315T>A	uc002afd.1	-	5	1118	c.674A>T	c.(673-675)tAt>tTt	p.Y225F	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	225	Peptidase M12B.				Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AGTCTGAATATAAAGCTGACA	0.348000														17			13		0	0	0.002450	0	0
TRAT1	50852	broad.mit.edu	37	3	108549601	108549601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:108549601C>T	uc003dxi.1	+	1	236	c.92C>T	c.(91-93)tCc>tTc	p.S31F	TRAT1_uc010hpx.1_Intron	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	31					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.S31F(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTCAATATTTCCCACTATGTG	0.408000														64			47		0	0	0.014410	0	0
RB1	5925	broad.mit.edu	37	13	49027168	49027168	+	Nonsense_Mutation	SNP	C	T	T	rs121913305		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:49027168C>T	uc001vcb.3	+	17	1901	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	579	Domain A.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R579*(10)|p.?(10)|p.R579fs*29(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCAAAGGACCGAGAAGGACC	0.338000	R579*(SW1783_CENTRAL_NERVOUS_SYSTEM)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				38			19		0	0	0.006122	0	0
HIF3A	64344	broad.mit.edu	37	19	46832655	46832655	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:46832655G>A	uc002peh.3	+	11	1663	c.1632G>A	c.(1630-1632)ggG>ggA	p.G544G	HIF3A_uc002peg.4_Silent_p.G544G|HIF3A_uc021uwf.1_Silent_p.G488G|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Silent_p.G475G|HIF3A_uc002pel.3_Silent_p.G542G|HIF3A_uc010xxz.2_Silent_p.G493G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	544	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCGCTGGGGGAGTGACCCCC	0.687000														10			9		0	0	0.008291	0	0
EBF3	253738	broad.mit.edu	37	10	131671816	131671817	+	Missense_Mutation	DNP	GG	AA	AA	rs150383257		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:131671816_131671817GG>AA	uc021qav.1	-	7	739_740	c.638_639CC>TT	c.(637-639)gcc>gTT	p.A213V	EBF3_uc001lki.2_Missense_Mutation_p.A227V	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	227					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.A227A(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGTCTGACACGGCCAGCACGTG	0.525000														27			20		0	0	0.004672	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66992756	66992756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:66992756G>A	uc003xvs.1	+	4	769	c.478G>A	c.(478-480)Gag>Aag	p.E160K	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	160					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GGATCTGGAGGAGCAGATCAA	0.572000														9			5		0	0	0.000602	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37491976	37491976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:37491976C>T	uc003aqt.1	-	4	621	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	TMPRSS6_uc003aqs.1_Missense_Mutation_p.E196K|TMPRSS6_uc003aqu.3_Missense_Mutation_p.E187K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	196					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGGTCCACTTCGTACTCGGCC	0.642000														29			30		0	0	0.003271	0	0
IFT57	55081	broad.mit.edu	37	3	107885814	107885814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:107885814G>A	uc021xcc.1	-	7	1014	c.961C>T	c.(961-963)Cat>Tat	p.H321Y	IFT57_uc003dwx.4_Missense_Mutation_p.H290Y	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	290					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			ATTTCATTATGGAGTTTGTCC	0.338000														21			12		0	0	0.002450	0	0
KCTD11	147040	broad.mit.edu	37	17	7256413	7256414	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:7256413_7256414AC>CT	uc002gge.4	+	0	1206_1207	c.152_153AC>CT	c.(151-153)tac>tCT	p.Y51S	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	51					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCCCGTGGGTACGGAGAGACAG	0.663000														12			11		0	0	0.004672	0	0
DBC1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:121929509C>T	uc004bkc.2	-	7	2595	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	713					cell cycle arrest|cell death	cytoplasm	protein binding	p.P712L(1)|p.P712T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000														13			79		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730565	140730565	+	Silent	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140730565T>A	uc003ljo.2	+	0	738	c.738T>A	c.(736-738)gtT>gtA	p.V246V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.V246V	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	249	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATACAGGGTTAGCCTCCAAG	0.557000														48			37		0	0	0.005524	0	0
TPP2	7174	broad.mit.edu	37	13	103266516	103266516	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:103266516C>T	uc001vpi.4	+	2	463	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	120					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTATGACTTCTATCCTAAGG	0.373000														29			22		0	0	0.006320	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558309	140558309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:140558309G>A	uc011dai.2	+	0	939	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	232	Cadherin 2.		E -> G (in dbSNP:rs17096954).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTACATTGAAGTTGTCGA	0.507000														64			55		0	0	0.014410	0	0
USP29	57663	broad.mit.edu	37	19	57640800	57640800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:57640800G>A	uc002qny.3	+	3	1113	c.757G>A	c.(757-759)Ggt>Agt	p.G253S	USP29_uc021vci.1_Missense_Mutation_p.G253S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	253					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCCAAAAATGGTTTGACATC	0.473000														28			15		0	0	0.004990	0	0
CEACAM20	125931	broad.mit.edu	37	19	45026687	45026687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:45026687C>T	uc010ejn.1	-	3	743	c.727G>A	c.(727-729)Ggt>Agt	p.G243S	CEACAM20_uc010ejo.1_Missense_Mutation_p.G243S|CEACAM20_uc010ejp.1_Missense_Mutation_p.G243S|CEACAM20_uc010ejq.1_Missense_Mutation_p.G243S	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	243	Ig-like C2-type 2.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TTCAGAGTACCCAGGCTGGAC	0.547000														195			109		0	0	0.014410	0	0
EDC4	23644	broad.mit.edu	37	16	67915935	67915935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:67915935C>T	uc002eur.3	+	22	3322	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F	EDC4_uc010cer.3_Missense_Mutation_p.S647F|EDC4_uc002eus.3_Missense_Mutation_p.S758F|EDC4_uc002eut.1_5'Flank|NRN1L_uc002euu.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	1028					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CAACAGTTGTCCCAAGCACTG	0.612000														13			9		0	0	0.006214	0	0
CDH6	1004	broad.mit.edu	37	5	31302310	31302310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:31302310G>A	uc003jhe.2	+	5	1264	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	CDH6_uc003jhd.2_Missense_Mutation_p.E302K	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	302	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAAAATGCTGAAATTGAGTA	0.448000														23			32		0	0	0.012213	0	0
ZNF560	147741	broad.mit.edu	37	19	9578517	9578517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:9578517G>A	uc002mlp.1	-	9	1316	c.1106C>T	c.(1105-1107)aCc>aTc	p.T369I	ZNF560_uc010dwr.1_Missense_Mutation_p.T263I	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CCCAATGTGGGTTTGCATGTG	0.388000														54			36		0	0	0.006999	0	0
TMEM105	284186	broad.mit.edu	37	17	79288207	79288207	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:79288207C>T	uc002kad.2	-	2	605	c.55_splice	c.e2+1	p.G19_splice		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	Homo sapiens transmembrane protein 105 (TMEM105), mRNA.	19						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GGTGCACAGACCTTGGTGTGG	0.637000														22			6		0	0	0.001984	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16505263	16505263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:16505263G>A	uc003sth.3	-	2	744	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	SOSTDC1_uc003stg.3_Missense_Mutation_p.L11F	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	Homo sapiens sclerostin domain containing 1 (SOSTDC1), mRNA.	11				FYLLPLA -> LSLIPLL (in Ref. 3; AAQ83296).	Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GCAAGGGGAAGGAGATAGAAA	0.423000														24			18		0	0	0.006122	0	0
CLIP3	25999	broad.mit.edu	37	19	36517887	36517888	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:36517887_36517888GG>AA	uc010eeq.2	-	2	680_681	c.366_367CC>TT	c.(364-369)ctccac>ctTTac	p.H123Y	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.H123Y	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	123					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACGCATAGTGGAGCAGTGTCA	0.614000														23			20		0	0	0.004672	0	0
ZNF652	22834	broad.mit.edu	37	17	47394220	47394220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:47394220G>A	uc002iov.4	-	1	1332	c.868C>T	c.(868-870)Cac>Tac	p.H290Y	ZNF652_uc002iow.3_Missense_Mutation_p.H290Y|ZNF652_uc002iou.4_Intron	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTTTGCTGGTGAAGGGACAGC	0.448000														88			32		0	0	0.004878	0	0
VIL1	7429	broad.mit.edu	37	2	219297644	219297644	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:219297644C>T	uc002vib.3	+	11	1492	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	VIL1_uc010zke.2_Silent_p.S179S|VIL1_uc002via.3_Silent_p.S490S	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	490	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCTTATGTCCATCTTCAAGG	0.547000														26			20		0	0	0.007413	0	0
STAB2	55576	broad.mit.edu	37	12	104100699	104100699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:104100699G>A	uc001tjw.3	+	37	4312	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1376	Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGAGTGTGGGGAGGGCTTCAG	0.597000														21			14		0	0	0.001855	0	0
ROBO1	6091	broad.mit.edu	37	3	79639029	79639029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:79639029C>T	uc003dqe.2	-	1	241	c.33G>A	c.(31-33)atG>atA	p.M11I		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	11					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGAGTGATATCATGACCAAAA	0.408000														65			47		0	0	0.014410	0	0
GC	2638	broad.mit.edu	37	4	72629585	72629585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:72629585C>T	uc010iif.3	-	5	694	c.599G>A	c.(598-600)aGt>aAt	p.S200N	GC_uc003hge.3_Missense_Mutation_p.S181N|GC_uc021xpb.1_Missense_Mutation_p.S181N	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	181	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AGAAAGATAACTCTTGGTGTA	0.368000														67			30		0	0	0.009535	0	0
LAMA2	3908	broad.mit.edu	37	6	129714402	129714402	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:129714402T>A	uc021zfb.1	+	37	5550	c.5445_splice	c.e37+2	p.E1815_splice	LAMA2_uc003qbn.3_Splice_Site_p.E1815_splice|LAMA2_uc003qbo.3_Splice_Site_p.E1815_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1815	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCATTGGAGGTGAGTCTTAGG	0.428000														4			13		0	0	0.001855	0	0
DHRS3	9249	broad.mit.edu	37	1	12628405	12628405	+	Silent	SNP	G	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:12628405G>C	uc001auc.3	-	5	1340	c.873C>G	c.(871-873)acC>acG	p.T291T	DHRS3_uc001aub.3_Silent_p.T206T	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	291					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGCAGGTGTAGGTTCCTGAGA	0.527000														68			63		0	0	0.014410	0	0
OR9A4	130075	broad.mit.edu	37	7	141619380	141619380	+	Silent	SNP	G	A	A	rs143629932		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:141619380G>A	uc003vwu.1	+	0	705	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235R(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGGCCGGAGGAAATCCTTCT	0.502000														54			40		0	0	0.014410	0	0
GRM6	2916	broad.mit.edu	37	5	178419000	178419000	+	Missense_Mutation	SNP	C	T	T	rs140082247	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:178419000C>T	uc003mjr.3	-	1	768	c.589G>A	c.(589-591)Gac>Aac	p.D197N	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	197					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGGTAGGAGTCGGGTGGCACC	0.622000														29			11		0	0	0.013537	0	0
ALOX15	246	broad.mit.edu	37	17	4542411	4542411	+	Silent	SNP	C	T	T	rs141412026		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:4542411C>T	uc002fyh.3	-	2	379	c.354G>A	c.(352-354)gaG>gaA	p.E118E	ALOX15_uc010vsd.2_Silent_p.E79E|ALOX15_uc010vse.2_Silent_p.E140E	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	118	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.G117C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCTGAGGGTCCTCGCCCACAG	0.607000														97			56		0	0	0.014410	0	0
RCAN2	10231	broad.mit.edu	37	2	174104179	174104180	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:174104179_174104180GG>AA	uc002uhz.3	+	15	1514_1515	c.1314_1315GG>AA	c.(1312-1317)ctggaa>ctAAaa	p.E439K	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TAGTGAACCTGGAACTGGTTTT	0.366000														20			12		0	0	0.004672	0	0
SPEN	23013	broad.mit.edu	37	1	16259360	16259360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:16259360C>T	uc001axk.1	+	10	6829	c.6625C>T	c.(6625-6627)Caa>Taa	p.Q2209*	SPEN_uc010obp.1_Nonsense_Mutation_p.Q2168*	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2209	Interaction with MSX2 (By similarity).|RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCTGCACACCAAGCAAGTGA	0.572000														37			21		0	0	0.010504	0	0
SLC24A1	9187	broad.mit.edu	37	15	65931956	65931956	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:65931956G>A	uc010ujf.2	+	3	2255	c.1968G>A	c.(1966-1968)ggG>ggA	p.G656G	SLC24A1_uc010ujd.1_Silent_p.G638G|SLC24A1_uc010uje.1_Silent_p.G638G|SLC24A1_uc010ujg.2_Silent_p.G656G|SLC24A1_uc010ujh.2_Silent_p.G638G	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	656					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGACCCGAGGGAGCAGCTCGA	0.622000														5			4		0	0	0.009096	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432921	104432921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:104432921C>T	uc004bbp.2	-	2	2374	c.1773G>A	c.(1771-1773)atG>atA	p.M591I	GRIN3A_uc004bbq.1_Missense_Mutation_p.M591I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	591					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTCAAAGTTCATGTCTTCTG	0.448000														22			21		0	0	0.008871	0	0
SYNE2	23224	broad.mit.edu	37	14	64547173	64547173	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:64547173G>A	uc001xgl.3	+	56	11394	c.11164_splice	c.e56-1	p.K3722_splice	SYNE2_uc001xgm.3_Splice_Site_p.K3722_splice|SYNE2_uc021ruh.1_Splice_Site_p.K3755_splice|SYNE2_uc010apy.3_Splice_Site_p.K84_splice|SYNE2_uc010apx.1_Splice_Site_p.K114_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3722					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCTTCTCCAGAAAATGTGGG	0.393000														39			34		0	0	0.006230	0	0
SSX9	280660	broad.mit.edu	37	X	48159160	48159161	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:48159160_48159161CC>TT	uc022bvu.1	-	4	374_375	c.372_373GG>AA	c.(370-375)aaggaa>aaAAaa	p.E125K						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TCTGGCACTTCCTTCGAATCAT	0.460000														31			163		0	0	0.004672	0	0
UGT2B10	7365	broad.mit.edu	37	4	69885758	69885758	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:69885758G>A	uc011cao.1	-	2	336	c.210C>T	c.(208-210)atC>atT	p.I70I	UGT2B10_uc011can.1_Silent_p.I70I			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	114					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGCCCACATGATTTCTTGTT	0.284000														13			8		0	0	0.003080	0	0
PROX2	283571	broad.mit.edu	37	14	75330535	75330535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:75330535C>T	uc021rwo.1	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	PROX2_uc001xqp.2_Missense_Mutation_p.M1I|PROX2_uc001xqq.2_Missense_Mutation_p.M1I	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	1					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGTTTGGATCCATCCCAGGCA	0.547000														28			32		0	0	0.006230	0	0
ZBED4	9889	broad.mit.edu	37	22	50280697	50280697	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:50280697C>T	uc003bix.2	+	1	3857	c.3387C>T	c.(3385-3387)gtC>gtT	p.V1129V	ZBED4_uc021wrx.1_Silent_p.V1129V	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	1129						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAAGCATCGTCCCTTCAGAAA	0.532000														32			12		0	0	0.004007	0	0
GJA1	2697	broad.mit.edu	37	6	121768817	121768817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:121768817C>T	uc003pyr.3	+	1	1074	c.824C>T	c.(823-825)aCc>aTc	p.T275I	GJA1_uc011ebo.1_Missense_Mutation_p.T176I|GJA1_uc011ebp.1_Missense_Mutation_p.T63I|GJA1_uc021zel.1_Missense_Mutation_p.T275I	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	275					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCCTCACCAACCGCTCCCCTC	0.517000														11			23		0	0	0.003330	0	0
APOLD1	81575	broad.mit.edu	37	12	12940208	12940208	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:12940208C>T	uc001rau.4	+	1	546	c.462C>T	c.(460-462)atC>atT	p.I154I	DDX47_uc001rav.3_Intron|APOLD1_uc001raw.4_Silent_p.I123I	NM_001130415	NP_001123887	Q96LR9	APLD1_HUMAN	Homo sapiens apolipoprotein L domain containing 1 (APOLD1), transcript variant 1, mRNA.	154					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		TGCAGGAGATCGCGGCCACCT	0.677000														37			43		0	0	0.006999	0	0
ARSK	153642	broad.mit.edu	37	5	94918713	94918713	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:94918713C>T	uc003kld.3	+	3	668	c.510C>T	c.(508-510)gtC>gtT	p.V170V	ARSK_uc010jbg.3_Silent_p.V11V|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	170						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GGACTAAAGTCAGAGTGATGG	0.413000														47			29		0	0	0.007291	0	0
ADAM7	8756	broad.mit.edu	37	8	24349506	24349506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:24349506G>A	uc003xeb.3	+	13	1560	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	ADAM7_uc003xec.3_Missense_Mutation_p.D255N	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	483	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTGTCCTAAGGACCAGTTCAG	0.473000														59			57		0	0	0.014410	0	0
SLC46A1	113235	broad.mit.edu	37	17	26732175	26732175	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:26732175C>T	uc002hbf.2	-	1	638	c.540G>A	c.(538-540)cgG>cgA	p.R180R	SLC46A1_uc021ttr.1_Silent_p.R180R|SLC46A1_uc010wak.2_Silent_p.R180R	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA.	180					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GCAGGGCCATCCGGAAGGTGC	0.667000														7			6		0	0	0.001168	0	0
C19orf57	79173	broad.mit.edu	37	19	14000670	14000670	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:14000670G>A	uc002mxl.1	-	5	1058	c.999C>T	c.(997-999)tcC>tcT	p.S333S	C19orf57_uc002mxk.1_Silent_p.S215S	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	333					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCATCCCGAGGGAGGAGCATC	0.652000														11			14		0	0	0.002450	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51917062	51917062	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:51917062C>T	uc002pwo.3	-	9	1947	c.1725G>A	c.(1723-1725)ccG>ccA	p.P575P	SIGLEC10_uc002pwp.3_Silent_p.P517P|SIGLEC10_uc021uyl.1_Silent_p.P397P|SIGLEC10_uc002pwq.3_Silent_p.P422P|SIGLEC10_uc010ycz.2_Silent_p.P432P|SIGLEC10_uc002pws.2_Silent_p.P332P|SIGLEC10_uc002pwr.3_Silent_p.P480P|SIGLEC10_uc010ycy.2_Silent_p.P390P|SIGLEC10_uc010eow.3_Silent_p.P292P|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	575					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P575P(2)|p.P517P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCCGTCTCTTCGGTAGAATCT	0.567000														49			29		0	0	0.007291	0	0
TRPC3	7222	broad.mit.edu	37	4	122854149	122854149	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:122854149C>T	uc003ieg.2	-	1	338	c.264G>A	c.(262-264)gaG>gaA	p.E88E	TRPC3_uc010inr.2_Silent_p.E15E|TRPC3_uc003ief.2_Silent_p.E15E|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	3					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCGGCCCTTCTCCCGCATCA	0.597000														21			8		0	0	0.008291	0	0
DPPA3	359787	broad.mit.edu	37	12	7867913	7867913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:7867913G>A	uc001qtf.3	+	1	295	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	73						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AGTCCTCAGGGAAATCGAAGA	0.473000														23			15		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179580331	179580331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179580331C>T	uc021vsy.1	-	85	22303	c.22078G>A	c.(22078-22080)Gtg>Atg	p.V7360M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4021M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8287	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCACAGCCACCGAGTCAACG	0.468000														24			13		0	0	0.013537	0	0
LMF1	64788	broad.mit.edu	37	16	921330	921330	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:921330G>A	uc021tae.1	-	6	913	c.909C>T	c.(907-909)atC>atT	p.I303I	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Silent_p.I86I|LMF1_uc021tad.1_Silent_p.I134I|LMF1_uc010bri.2_Silent_p.I66I|LMF1_uc002ckk.2_Silent_p.I86I	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	303						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				TCCCGCTGACGATGAGGACGG	0.662000														14			12		0	0	0.013537	0	0
HSP90B3P	343477	broad.mit.edu	37	1	92108892	92108892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:92108892C>T	uc010osx.2	+	2	919	c.919C>T	c.(919-921)Cct>Tct	p.P307S						Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA.																		GGCTGAATCTCCTCCATCTGT	0.428000														31			19		0	0	0.014323	0	0
CAND2	23066	broad.mit.edu	37	3	12859147	12859147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:12859147G>A	uc003bxk.2	+	9	2765	c.2716G>A	c.(2716-2718)Gct>Act	p.A906T	CAND2_uc003bxj.2_Missense_Mutation_p.A813T	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	906					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCAGATCGAGGCTGAGCCCCG	0.672000														49			40		0	0	0.007835	0	0
MUC13	56667	broad.mit.edu	37	3	124627080	124627080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:124627080G>A	uc003ehq.2	-	10	1489	c.1450C>T	c.(1450-1452)Cct>Tct	p.P484S		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	484						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTGACCTTAGGAAAGACGCTC	0.488000														28			24		0	0	0.003954	0	0
IL31RA	133396	broad.mit.edu	37	5	55185847	55185847	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:55185847A>G	uc003jql.3	+	5	848	c.656A>G	c.(655-657)aAc>aGc	p.N219S	IL31RA_uc003jqk.3_Missense_Mutation_p.N219S|IL31RA_uc011cqj.2_Missense_Mutation_p.N77S|IL31RA_uc003jqm.3_Missense_Mutation_p.N200S|IL31RA_uc003jqn.3_Missense_Mutation_p.N219S|IL31RA_uc010iwa.1_Missense_Mutation_p.N187S|IL31RA_uc021xyq.1_Missense_Mutation_p.N200S|IL31RA_uc003jqo.3_Missense_Mutation_p.N77S	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	187	Fibronectin type-III 2.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAAACGTACAACCTCACGGGG	0.453000														20			16		0	0	0.004990	0	0
TMEM119	338773	broad.mit.edu	37	12	108985776	108985776	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:108985776G>A	uc001tng.3	-	1	547	c.384C>T	c.(382-384)taC>taT	p.Y128Y	TMEM119_uc021rdl.1_Silent_p.Y128Y	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	128						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGGACGATGGGTAATAGGCCG	0.637000														12			11		0	0	0.008291	0	0
SALL3	27164	broad.mit.edu	37	18	76753485	76753485	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:76753485C>T	uc002lmt.3	+	1	1494	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	SALL3_uc010dra.3_Silent_p.P105P	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I497S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGGCATCCCCTACGGCATGT	0.662000														14			11		0	0	0.001855	0	0
PDGFC	56034	broad.mit.edu	37	4	157693952	157693952	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:157693952C>T	uc003iph.2	-	3	1080	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PDGFC_uc003ipi.2_Missense_Mutation_p.E34K|PDGFC_uc011cis.2_Missense_Mutation_p.E34K|PDGFC_uc011cir.2_Missense_Mutation_p.E41K	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	197					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATAAGGTCTTCCAAGGTACTA	0.438000														30			14		0	0	0.002450	0	0
ZNF609	23060	broad.mit.edu	37	15	64791939	64791939	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:64791939C>T	uc002ann.3	+	0	321	c.321C>T	c.(319-321)tcC>tcT	p.S107S	ZNF609_uc010bgy.3_Silent_p.S107S	NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	107						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGGACTTCCCTGTTCACTC	0.547000														27			19		0	0	0.007413	0	0
ZNF208	7757	broad.mit.edu	37	19	22154481	22154481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:22154481C>T	uc021urr.1	-	3	3504	c.3355G>A	c.(3355-3357)Ggc>Agc	p.G1119S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGCTTTTGCCACATTCTTCA	0.378000														41			26		0	0	0.003954	0	0
CDH13	1012	broad.mit.edu	37	16	83712034	83712034	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:83712034G>A	uc010vns.2	+	10	1911	c.1647G>A	c.(1645-1647)acG>acA	p.T549T	CDH13_uc002fgx.3_Silent_p.T502T|CDH13_uc010vnt.2_Silent_p.T248T|CDH13_uc010vnu.2_Silent_p.T463T	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	502	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGAATGCCACGGACCCCGACT	0.602000														19			18		0	0	0.004990	0	0
TET2	54790	broad.mit.edu	37	4	106156272	106156272	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:106156272C>T	uc011cez.2	+	2	1641	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	TET2_uc003hxk.3_Silent_p.S391S|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Silent_p.S391S|TET2_uc010ilp.2_Silent_p.S391S|TET2_uc021xql.1_Silent_p.S391S	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	391	Pro-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTAAGGATTCCTTTTCTGCCA	0.458000			"""Mis N, F"""		MDS									55			23		0	0	0.003954	0	0
FCN1	2219	broad.mit.edu	37	9	137808221	137808221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:137808221C>T	uc004cfi.3	-	1	279	c.190G>A	c.(190-192)Gga>Aga	p.G64R		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	64	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCTGCCTCTCCCTTTGGCCCT	0.642000														110			122		0	0	0.014410	0	0
CMYA5	202333	broad.mit.edu	37	5	79030995	79030995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:79030995C>T	uc003kgc.3	+	1	6479	c.6407C>T	c.(6406-6408)tCc>tTc	p.S2136F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2136						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACCCATCTCCTCAATCCAT	0.448000														32			33		0	0	0.013726	0	0
SDK1	221935	broad.mit.edu	37	7	4277376	4277376	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:4277376C>T	uc003smx.3	+	41	6229	c.6090C>T	c.(6088-6090)gtC>gtT	p.V2030V	SDK1_uc010kso.3_Silent_p.V1286V|SDK1_uc003smy.3_Silent_p.V517V|SDK1_uc003smz.3_Silent_p.V90V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2030					cell adhesion	integral to membrane		p.V2030F(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCGCCCTCGTCCTGCACGGGC	0.572000														51			32		0	0	0.003755	0	0
DNAH5	1767	broad.mit.edu	37	5	13864608	13864608	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:13864608C>T	uc003jfd.2	-	27	4536	c.4494G>A	c.(4492-4494)agG>agA	p.R1498R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1498	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1497K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGTGGTTATCCTTTCCCAGT	0.458000									Kartagener syndrome					31			17		0	0	0.004990	0	0
SETD7	80854	broad.mit.edu	37	4	140444586	140444586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:140444586G>A	uc003ihw.3	-	4	852	c.566C>T	c.(565-567)tCa>tTa	p.S189L		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 7 (SETD7), mRNA.	189					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					GTGGTACACTGAATCTGAAAA	0.373000														74			48		0	0	0.014410	0	0
CSMD2	114784	broad.mit.edu	37	1	34090703	34090703	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:34090703G>A	uc001bxm.1	-	33	5625	c.5448C>T	c.(5446-5448)ctC>ctT	p.L1816L	CSMD2_uc001bxn.1_Silent_p.L1776L|CSMD2_uc001bxo.1_Silent_p.L689L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1776	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGCACAGGGAGGCACTCGA	0.657000														50			25		0	0	0.005443	0	0
PROX2	283571	broad.mit.edu	37	14	75330053	75330053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:75330053C>T	uc021rwo.1	-	0	485	c.485G>A	c.(484-486)gGg>gAg	p.G162E	PROX2_uc001xqp.2_Missense_Mutation_p.G162E|PROX2_uc001xqq.2_Missense_Mutation_p.G162E	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	162					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GCCTCCTGGCCCCTGAGCTGT	0.607000														26			23		0	0	0.014323	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013371	149013371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:149013371C>T	uc022cgq.1	+	0	325	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	MAGEA8_uc022cgo.1_Missense_Mutation_p.R109W|MAGEA8_uc004fdw.2_Missense_Mutation_p.R109W|MAGEA8_uc022cgp.1_Missense_Mutation_p.R109W	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	109										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCTGTTCCGGGAAGCACT	0.542000														12			57		0	0	0.014410	0	0
LILRB1	10859	broad.mit.edu	37	19	55143953	55143953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:55143953C>T	uc002qgj.3	+	6	1040	c.700C>T	c.(700-702)Cct>Tct	p.P234S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.P234S|LILRB1_uc002qgk.3_Missense_Mutation_p.P234S|LILRB1_uc002qgm.3_Missense_Mutation_p.P234S|LILRB1_uc010erq.3_Missense_Mutation_p.P234S|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	234	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P234S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCAGCCAGGTCCTATCGTGGC	0.537000										HNSCC(37;0.09)				52			30		0	0	0.010818	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612250	16612250	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:16612250C>T	uc002gqk.1	+	4	955	c.879C>T	c.(877-879)ctC>ctT	p.L293L	CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	293																	AATTAAAACTCGTCATAAATG	0.363000														42			26		0	0	0.003755	0	0
PAPPA	5069	broad.mit.edu	37	9	118969759	118969759	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:118969759G>A	uc004bjn.3	+	2	1884	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	PAPPA_uc011lxp.1_Silent_p.L294L|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	501	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTAATGAGCTGAAGAACATTC	0.413000														30			25		0	0	0.005443	0	0
ALDH3A1	218	broad.mit.edu	37	17	19642820	19642820	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:19642820C>T	uc002gwk.3	-	6	1730	c.1467_splice	c.e6+1	p.K489_splice	ALDH3A1_uc010cqu.3_Splice_Site_p.K372_splice|ALDH3A1_uc010vzd.2_Splice_Site_p.K372_splice|ALDH3A1_uc002gwj.3_Splice_Site_p.K372_splice|ALDH3A1_uc010cqv.3_Splice_Site_p.K371_splice|ALDH3A1_uc002gwl.1_Splice_Site_p.K299_splice			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	372					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCACCACCCACCTTGTCGTTG	0.627000														12			9		0	0	0.006214	0	0
NDUFS7	374291	broad.mit.edu	37	19	1390911	1390911	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:1390911C>T	uc002lsf.2	+	5	571	c.462C>T	c.(460-462)gcC>gcT	p.A154A	NDUFS7_uc002lsh.3_Silent_p.A154A|NDUFS7_uc002lsg.2_Silent_p.A97A|NDUFS7_uc002lse.4_Silent_p.A90A			O75251	NDUS7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7), nuclear gene encoding mitochondrial protein, mRNA.	90					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	CCTGCTGCGCCGTGGAGATGA	0.701000														32			17		0	0	0.010504	0	0
PNISR	25957	broad.mit.edu	37	6	99851718	99851719	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:99851718_99851719GG>AA	uc003ppo.4	-	9	1370_1371	c.1142_1143CC>TT	c.(1141-1143)tcc>tTT	p.S381F	PNISR_uc021zdd.1_5'Flank|PNISR_uc003ppp.4_Missense_Mutation_p.S381F|PNISR_uc011eag.2_Missense_Mutation_p.S381F	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	381						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTCCAGTGAGGGAAGCCAGTGC	0.426000														4			14		0	0	0.004672	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576154	20576154	+	Missense_Mutation	SNP	C	T	T	rs144570025		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:20576154C>T	uc002dhj.4	-	2	224	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ACSM2B_uc002dhk.4_Missense_Mutation_p.R5Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R5Q	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	5					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.R5Q(2)|p.R5*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGAACTTTTCGCAGCCAATG	0.498000														40			20		0	0	0.014323	0	0
KIAA0556	23247	broad.mit.edu	37	16	27689234	27689234	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:27689234T>C	uc002dow.3	+	6	749	c.725T>C	c.(724-726)gTt>gCt	p.V242A	KIAA0556_uc002dox.1_Missense_Mutation_p.V150A	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	242										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CAGAAAGATGTTCACGGGGAA	0.567000														33			23		0	0	0.003330	0	0
C12orf35	55196	broad.mit.edu	37	12	32145457	32145458	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:32145457_32145458TC>GT	uc001rks.3	+	5	5646_5647	c.5232_5233TC>GT	c.(5230-5235)agtcct>agGTct	p.1744_1745SP>RS		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1744										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TTGGTAGCAGTCCTGTAAAATA	0.356000														123			49		0	0	0.004672	0	0
SERPINF2	5345	broad.mit.edu	37	17	1649139	1649139	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:1649139C>T	uc002ftk.1	+	4	380	c.303C>T	c.(301-303)tcC>tcT	p.S101S	SERPINF2_uc010vqr.1_Intron|SERPINF2_uc021tnm.1_Silent_p.S101S	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	101					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CTCAAACGTCCACCTGCCCCA	0.637000														55			40		0	0	0.009718	0	0
FASN	2194	broad.mit.edu	37	17	80038593	80038593	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:80038593G>A	uc002kdu.3	-	38	6918	c.6801C>T	c.(6799-6801)ccC>ccT	p.P2267P	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2267	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGCCATAGGTGGGGATGCTGA	0.682000														15			8		0	0	0.004482	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455560	187455560	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:187455560G>A	uc003izd.1	-	1	354	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	112					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity	p.V111I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ATATGGAGCCGATGACGCTCA	0.527000														22			27		0	0	0.009535	0	0
TIGD3	220359	broad.mit.edu	37	11	65123767	65123767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:65123767C>T	uc021qlj.1	+	0	488	c.488C>T	c.(487-489)tCc>tTc	p.S163F	TIGD3_uc001odo.4_Missense_Mutation_p.S163F	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	163					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTGCCTCTTTCCCTAAAAGAC	0.587000														119			56		0	0	0.014410	0	0
ZC3H18	124245	broad.mit.edu	37	16	88664701	88664701	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:88664701C>T	uc010voz.2	+	4	1076	c.876C>T	c.(874-876)ctC>ctT	p.L292L	ZC3H18_uc021tmm.1_Silent_p.L292L|ZC3H18_uc010voy.1_Silent_p.L151L|ZC3H18_uc002fky.3_Silent_p.L268L	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	268	Pro-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCCGCCTCTCGGACCTCACC	0.537000														58			38		0	0	0.008740	0	0
C6	729	broad.mit.edu	37	5	41195973	41195973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:41195973C>T	uc003jmk.2	-	4	718	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	C6_uc003jml.1_Missense_Mutation_p.E170K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	170	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGTCCCTTTCATCTGAATTG	0.413000														44			30		0	0	0.009535	0	0
FAT3	120114	broad.mit.edu	37	11	92531183	92531183	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:92531183C>T	uc001pdj.4	+	8	5021	c.5004C>T	c.(5002-5004)caC>caT	p.H1668H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1668	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H1668Q(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAATTCTCACCCCAAGTTCA	0.438000										TCGA Ovarian(4;0.039)				90			211		0	0	0.014410	0	0
GTSF1L	149699	broad.mit.edu	37	20	42354942	42354942	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:42354942C>T	uc002xld.3	-	0	701	c.393G>A	c.(391-393)acG>acA	p.T131T	GTSF1L_uc002xlc.3_Silent_p.T106T	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	131							metal ion binding	p.T131T(2)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTGACTCTTTCGTGTCATTTT	0.478000														42			38		0	0	0.006999	0	0
DUOX2	50506	broad.mit.edu	37	15	45401027	45401027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:45401027G>A	uc001zun.3	-	11	1561	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	DUOX2_uc010bea.3_Missense_Mutation_p.P453L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	453	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCAGTTCCTTGGGATGTCCAG	0.522000														47			28		0	0	0.008361	0	0
CHN1	1123	broad.mit.edu	37	2	175742644	175742644	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:175742644T>C	uc002uji.3	-	5	814	c.473A>G	c.(472-474)aAa>aGa	p.K158R	CHN1_uc010zeq.2_Missense_Mutation_p.K158R|CHN1_uc002ujj.3_Intron	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	158					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	p.Y157C(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CATATGTTTTTTGTATGCTGG	0.418000			T	TAF15	extraskeletal myxoid chondrosarcoma									47			50		0	0	0.014410	0	0
C1orf222	339457	broad.mit.edu	37	1	1854151	1854151	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:1854151G>A	uc001aik.3	-	9	1543	c.693C>T	c.(691-693)ttC>ttT	p.F231F	C1orf222_uc001ail.3_Silent_p.F231F			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	231										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTCTATGCTGAACTCAACGG	0.622000														38			23		0	0	0.004656	0	0
SRPX2	27286	broad.mit.edu	37	X	99920558	99920558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:99920558G>A	uc004egb.3	+	6	1165	c.685G>A	c.(685-687)Ggc>Agc	p.G229S		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	229	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCCTGAGCCTGGCTCTCACTT	0.522000														7			42		0	0	0.008740	0	0
TEX15	56154	broad.mit.edu	37	8	30701209	30701209	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:30701209C>T	uc003xil.3	-	0	5325	c.5325G>A	c.(5323-5325)agG>agA	p.R1775R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1775										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTCTTTTCCCTTTTTGTTT	0.318000														16			10		0	0	0.006214	0	0
NCOA2	10499	broad.mit.edu	37	8	71128914	71128914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:71128914G>A	uc003xyn.1	-	2	229	c.67C>T	c.(67-69)Cct>Tct	p.P23S		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	23					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGTTGGTCAGGACATTCCTTG	0.418000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									54			43		0	0	0.014410	0	0
PROX1	5629	broad.mit.edu	37	1	214170398	214170398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:214170398C>T	uc001hkh.3	+	1	792	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PROX1_uc001hkg.1_Missense_Mutation_p.R174W	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	174					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAATATAATTCGGGGTATGAG	0.498000														88			29		0	0	0.009535	0	0
RPIA	22934	broad.mit.edu	37	2	89049514	89049515	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:89049514_89049515CC>TT	uc002ste.3	+	8	896_897	c.855_856CC>TT	c.(853-858)ggccta>ggTTta	p.285_286GL>GL		NM_144563	NP_653164	P49247	RPIA_HUMAN	Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA.	285					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TGGACACAGGCCTATTCATCAA	0.490000														40			24		0	0	0.004672	0	0
PEAR1	375033	broad.mit.edu	37	1	156883008	156883008	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:156883008C>T	uc001fqj.1	+	18	2561	c.2445C>T	c.(2443-2445)caC>caT	p.H815H	PEAR1_uc001fqk.1_Silent_p.H440H	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	815	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTACAGTCACTACTACTCCA	0.607000														68			112		0	0	0.014410	0	0
FAM46C	54855	broad.mit.edu	37	1	118165667	118165667	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:118165667G>A	uc021osq.1	+	0	177	c.177G>A	c.(175-177)ctG>ctA	p.L59L	FAM46C_uc001ehe.3_Silent_p.L59L	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	59										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GCAGTCGGCTGGAGGAGGCAG	0.562000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				45			25		0	0	0.004656	0	0
NSMAF	8439	broad.mit.edu	37	8	59508133	59508133	+	Silent	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:59508133A>G	uc011lee.2	-	21	2032	c.1971T>C	c.(1969-1971)taT>taC	p.Y657Y	NSMAF_uc003xtt.3_Silent_p.Y626Y	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	626					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TGTGGATTTTATAGTGCTCGT	0.423000														29			19		0	0	0.014323	0	0
ZNF507	22847	broad.mit.edu	37	19	32843872	32843872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:32843872C>T	uc002nte.3	+	2	408	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	ZNF507_uc002ntc.2_Missense_Mutation_p.H46Y|ZNF507_uc010xrn.1_Missense_Mutation_p.H46Y|ZNF507_uc002ntd.3_Missense_Mutation_p.H46Y	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TCCATTAATCCATGTTATCCA	0.373000														20			15		0	0	0.003163	0	0
C14orf21	161424	broad.mit.edu	37	14	24769901	24769901	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:24769901C>T	uc001wol.1	+	1	598	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	179							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		CACGGAGACCCTGGAGGAGCT	0.552000														73			39		0	0	0.008740	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002861	52002861	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:52002861C>T	uc002pwx.1	-	2	974	c.918G>A	c.(916-918)acG>acA	p.T306T	SIGLEC12_uc002pww.1_Silent_p.T188T|SIGLEC12_uc010eoy.1_Silent_p.T33T	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	306	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding	p.T306M(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCAGGTGATCGTGGGGGGCG	0.667000														29			26		0	0	0.005443	0	0
CRYBB2	1415	broad.mit.edu	37	22	25625498	25625498	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:25625498C>T	uc003abp.1	+	4	450	c.402C>T	c.(400-402)gcC>gcT	p.A134A		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	134	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GCTTCCACGCCCATGGCTACC	0.547000														14			16		0	0	0.010504	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23563409	23563409	+	RNA	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrY:23563409T>C	uc004fun.1	-	0		c.40A>G								Homo sapiens RNA binding motif protein, Y-linked, family 2, member E pseudogene (RBMY2EP), non-coding RNA.																		TAAGCATCTTTTCATTGGTTT	0.393000														18			3		0	0	0.000602	0	0
C2orf77	129881	broad.mit.edu	37	2	170510670	170510670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:170510670C>T	uc002ufe.2	-	5	968	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	292										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						TCATCTTCTTCCTCTTGCTGC	0.328000														5			5		0	0	0.000602	0	0
ITSN2	50618	broad.mit.edu	37	2	24521542	24521542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:24521542C>T	uc002rfe.2	-	12	1744	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	ITSN2_uc002rff.2_Missense_Mutation_p.E496K|ITSN2_uc002rfg.3_Missense_Mutation_p.E496K|ITSN2_uc010eyd.2_Missense_Mutation_p.E521K	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	496					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGTGCTTCCAACTCAAGA	0.408000														42			31		0	0	0.013726	0	0
RALYL	138046	broad.mit.edu	37	8	85799935	85799935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:85799935G>A	uc003yct.4	+	7	955	c.821G>A	c.(820-822)gGa>gAa	p.G274E	RALYL_uc003ycq.4_Missense_Mutation_p.G261E|RALYL_uc003ycr.4_Missense_Mutation_p.G261E|RALYL_uc003ycs.4_Missense_Mutation_p.G261E|RALYL_uc010lzy.3_Missense_Mutation_p.G250E|RALYL_uc003ycu.4_Missense_Mutation_p.G188E	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	261							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCTGCTGAAGGAGGGCCAGAT	0.488000														52			27		0	0	0.006320	0	0
SALL1	6299	broad.mit.edu	37	16	51175289	51175289	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:51175289A>C	uc021tif.1	-	1	875	c.553T>G	c.(553-555)Ttg>Gtg	p.L185V	SALL1_uc021tid.1_Missense_Mutation_p.L185V|SALL1_uc021tie.1_Missense_Mutation_p.L282V|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	282					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCGTGGACAAGGGGTTGGCA	0.493000														61			41		0	0	0.006230	0	0
PCID2	55795	broad.mit.edu	37	13	113852557	113852557	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:113852557A>C	uc021rmt.1	-	2	229	c.148T>G	c.(148-150)Tgt>Ggt	p.C50G	PCID2_uc021rmq.1_Missense_Mutation_p.C50G|PCID2_uc021rmr.1_Missense_Mutation_p.C50G|PCID2_uc021rms.1_Missense_Mutation_p.C50G|PCID2_uc001vtg.2_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	50					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			ACTTGTTGACACTTCTCCTCT	0.358000														67			51		0	0	0.014410	0	0
OR6C2	341416	broad.mit.edu	37	12	55846693	55846693	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:55846693G>A	uc001sgz.1	+	0	696	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTCAGCAAAGGAAAAAGGCCT	0.413000														67			55		0	0	0.014410	0	0
COL21A1	81578	broad.mit.edu	37	6	55933915	55933915	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:55933915C>T	uc003pcs.3	-	22	2252	c.2020_splice	c.e22-1	p.G674_splice	COL21A1_uc010jzz.3_Splice_Site_p.G59_splice|COL21A1_uc011dxg.2_Splice_Site_p.G59_splice|COL21A1_uc011dxh.2_Splice_Site_p.G59_splice|COL21A1_uc003pcr.3_Splice_Site_p.R31_splice	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	674	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTGGTTCTCCCTATGTAACA	0.408000														13			10		0	0	0.008291	0	0
NF1	4763	broad.mit.edu	37	17	29556163	29556163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:29556163C>T	uc002hgg.3	+	20	2913	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F	NF1_uc002hgh.3_Missense_Mutation_p.L844F|NF1_uc010csn.2_Missense_Mutation_p.L704F|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	844			L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).		MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGGCTTCCTTTGTGCCCT	0.517000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				21			22		0	0	0.010504	0	0
PABPC4	8761	broad.mit.edu	37	1	40033455	40033455	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:40033455A>G	uc001cdl.2	-	6	1838	c.940T>C	c.(940-942)Ttt>Ctt	p.F314L	PABPC4_uc010oiv.1_Missense_Mutation_p.F314L|PABPC4_uc001cdm.2_Missense_Mutation_p.F314L|SNORA55_uc001cdo.1_5'Flank	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	314	RRM 4.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.E313D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAAGGAGAAAATTCTTTCCTT	0.368000														33			21		0	0	0.003954	0	0
SPEG	10290	broad.mit.edu	37	2	220349257	220349257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:220349257G>A	uc010fwg.3	+	29	7072	c.7072G>A	c.(7072-7074)Gag>Aag	p.E2358K		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2358	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTCGCGCTCGGAGGAGCGCGG	0.716000														5			4		0	0	0.001168	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237115	5237115	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:5237115A>T	uc003jdl.3	+	13	2195	c.2057A>T	c.(2056-2058)gAa>gTa	p.E686V	ADAMTS16_uc003jdk.1_Missense_Mutation_p.E686V|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	686	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGTATCGCAGAAGGATTTGAT	0.353000														54			35		0	0	0.004878	0	0
DPYS	1807	broad.mit.edu	37	8	105393486	105393486	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:105393486C>T	uc003yly.4	-	8	1629	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	DPYS_uc010mcf.1_Silent_p.L70L	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	500					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCTGGATTTCAGTGTGGCGA	0.493000														32			22		0	0	0.002780	0	0
COL21A1	81578	broad.mit.edu	37	6	56033065	56033065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:56033065G>A	uc003pcs.3	-	5	1289	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R353C|COL21A1_uc003pcu.1_Missense_Mutation_p.R353C	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	353	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R353H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACTAAGAGACGAATTTGGTGC	0.348000														16			5		0	0	0.001168	0	0
GK	2710	broad.mit.edu	37	X	30736685	30736685	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:30736685C>T	uc022buj.1	+	13	1185	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	GK_uc004dch.4_Missense_Mutation_p.R336C|GK_uc010ngj.3_Missense_Mutation_p.R330C|GK_uc004dci.4_Missense_Mutation_p.R330C|GK_uc011mjz.2_Missense_Mutation_p.R131C|GK_uc011mka.2_Missense_Mutation_p.R173C|GK_uc010ngk.3_Missense_Mutation_p.R125C	NM_001205019	NP_001191948	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.	336					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TGCTGTTATTCGCTGGCTAAG	0.333000														2			14		0	0	0.004007	0	0
HMGCL	3155	broad.mit.edu	37	1	24130967	24130967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:24130967G>A	uc001bib.3	-	7	843	c.799C>T	c.(799-801)Ccc>Tcc	p.P267S	HMGCL_uc010oec.2_Missense_Mutation_p.P196S|HMGCL_uc001bic.3_Missense_Mutation_p.P242S|HMGCL_uc009vqs.1_Missense_Mutation_p.P160S|HMGCL_uc021oii.1_Missense_Mutation_p.P72S	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	267					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TGTGCGTAGGGACAGCCTCCA	0.562000														41			26		0	0	0.003330	0	0
UTP20	27340	broad.mit.edu	37	12	101763530	101763530	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:101763530G>A	uc001tia.1	+	48	6572	c.6416G>A	c.(6415-6417)tGg>tAg	p.W2139*		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2139					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCCTCATCTGGGTCTTGAGG	0.493000														86			64		0	0	0.014410	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564804	46564804	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:46564804G>A	uc001ncv.2	-	6	1077	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q255*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q255*|AMBRA1_uc010rgu.1_Nonsense_Mutation_p.Q255*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q255*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q255*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	345					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCTCCCACCTGGATGCCAGAA	0.627000														10			9		0	0	0.008291	0	0
MYO5C	55930	broad.mit.edu	37	15	52571191	52571191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:52571191G>A	uc010bff.3	-	3	490	c.328C>T	c.(328-330)Cct>Tct	p.P110S	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.P73S|MIR1266_uc021smp.1_5'Flank	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	110	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGCTTGTAAGGATTCATGGCC	0.448000														59			34		0	0	0.008740	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003339	52003339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:52003339C>T	uc002pwx.1	-	1	699	c.643G>A	c.(643-645)Gat>Aat	p.D215N	SIGLEC12_uc002pww.1_Missense_Mutation_p.D97N|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	215	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCGTGGGTATCCTCTTGCACT	0.532000														64			42		0	0	0.008740	0	0
VN1R1	57191	broad.mit.edu	37	19	57967429	57967429	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:57967429G>A	uc002qos.2	-	0	679	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN	Homo sapiens vomeronasal 1 receptor 1 (VN1R1), mRNA.	142					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.L142I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GGAATCCATTGAGAAGGCAGA	0.428000														47			32		0	0	0.013726	0	0
MORC1	27136	broad.mit.edu	37	3	108690227	108690227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:108690227G>A	uc003dxl.3	-	24	2587	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	MORC1_uc011bhn.2_Missense_Mutation_p.P813S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	834					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATGCTCAGGAAAAAAATAC	0.403000														37			20		0	0	0.010504	0	0
ANK3	288	broad.mit.edu	37	10	61815586	61815586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:61815586G>A	uc001jky.3	-	41	13233	c.12895C>T	c.(12895-12897)Cca>Tca	p.P4299S	ANK3_uc001jkw.3_Missense_Mutation_p.P923S|ANK3_uc009xpa.3_Missense_Mutation_p.P923S|ANK3_uc001jkx.3_Missense_Mutation_p.P967S|ANK3_uc010qih.2_Missense_Mutation_p.P1790S|ANK3_uc001jkz.4_Missense_Mutation_p.P1783S|ANK3_uc001jkv.3_Missense_Mutation_p.P322S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4299					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTGCTAGTGGTGATGCTGGT	0.393000														90			75		0	0	0.014410	0	0
NLRP8	126205	broad.mit.edu	37	19	56487619	56487619	+	Silent	SNP	C	T	T	rs61734100	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:56487619C>T	uc002qmh.3	+	7	2897	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	NLRP8_uc010etg.3_Silent_p.I923I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	942						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATGGGGTGATCCTGCTGTGTG	0.453000														50			36		0	0	0.006230	0	0
TMEM63B	55362	broad.mit.edu	37	6	44116100	44116100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:44116100C>T	uc003owr.3	+	12	1163	c.1099C>T	c.(1099-1101)Cac>Tac	p.H367Y	TMEM63B_uc003owq.1_Missense_Mutation_p.H367Y|TMEM63B_uc003ows.3_Missense_Mutation_p.H270Y|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	367						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TGTCACCTTCCACAATGAGAC	0.572000														56			76		0	0	0.014410	0	0
C15orf55	256646	broad.mit.edu	37	15	34649254	34649254	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:34649254A>T	uc010ucc.2	+	7	3427	c.3045A>T	c.(3043-3045)gaA>gaT	p.E1015D	C15orf55_uc010ucd.2_Missense_Mutation_p.E1005D|C15orf55_uc001zif.3_Missense_Mutation_p.E987D	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	987						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TTCCGAGAGAAACTTCTGTTA	0.473000			T	"""BRD3, BRD4"""	lethal midline carcinoma									18			14		0	0	0.001855	0	0
ASAH2	56624	broad.mit.edu	37	10	52005023	52005023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:52005023C>T	uc001jjd.3	-	1	319	c.319G>A	c.(319-321)Gga>Aga	p.G107R	ASAH2_uc009xos.3_Missense_Mutation_p.G107R	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	107					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TCAGCTCGTCCAACACCAATA	0.448000														122			81		0	0	0.014410	0	0
SLC2A14	144195	broad.mit.edu	37	12	7966932	7966933	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:7966932_7966933CC>TT	uc010sgh.2	-	9	1608_1609	c.1587_1588GG>AA	c.(1585-1590)aaggag>aaAAag	p.E530K	SLC2A14_uc001qtk.3_Missense_Mutation_p.E515K|SLC2A14_uc001qtl.3_Missense_Mutation_p.E492K|SLC2A14_uc001qtm.3_Missense_Mutation_p.E492K|SLC2A14_uc010sgg.2_Missense_Mutation_p.E406K|SLC2A14_uc001qtn.3_Missense_Mutation_p.E515K|SLC2A14_uc001qto.3_Missense_Mutation_p.E150K	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	515					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTGGTGGTCTCCTTAGCAGGCT	0.550000														121			66		0	0	0.004672	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619498	7619498	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:7619498C>T	uc010xjq.2	+	22	2793	c.2553C>T	c.(2551-2553)atC>atT	p.I851I	PNPLA6_uc002mgq.2_Silent_p.I803I|PNPLA6_uc010xjp.2_Silent_p.I776I|PNPLA6_uc002mgr.2_Silent_p.I803I|PNPLA6_uc002mgs.3_Silent_p.I841I	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	842					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CACACCGTATCGTACTCTACC	0.662000														43			23		0	0	0.003954	0	0
PKHD1	5314	broad.mit.edu	37	6	51890262	51890262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:51890262C>T	uc003pah.1	-	31	4622	c.4346G>A	c.(4345-4347)gGt>gAt	p.G1449D	PKHD1_uc003pai.3_Missense_Mutation_p.G1449D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1449	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.E1448V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAGGGGTCACCCTCCAGGCT	0.522000														55			28		0	0	0.007291	0	0
ABCC9	10060	broad.mit.edu	37	12	21968756	21968756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:21968756C>T	uc001rfh.3	-	31	3984	c.3964G>A	c.(3964-3966)Gaa>Aaa	p.E1322K	ABCC9_uc001rfi.1_Missense_Mutation_p.E1322K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1322	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATTATTTTCATATCTGACA	0.398000														43			27		0	0	0.006320	0	0
RREB1	6239	broad.mit.edu	37	6	7229427	7229427	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:7229427C>T	uc003mxb.3	+	9	1587	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	RREB1_uc021yky.1_Silent_p.A365A|RREB1_uc003mxc.3_Silent_p.A365A|RREB1_uc010jnx.3_Silent_p.A365A|RREB1_uc021ykz.1_Silent_p.A365A|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	365					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCTTCCTGGCCTTGCTTGGCC	0.642000														6			21		0	0	0.002780	0	0
OR10A3	26496	broad.mit.edu	37	11	7960955	7960955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:7960955G>A	uc010rbi.2	-	0	113	c.113C>T	c.(112-114)aCc>aTc	p.T38I		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCCATCAGGGTCACCACATA	0.473000														38			32		0	0	0.009535	0	0
ADAM30	11085	broad.mit.edu	37	1	120438853	120438854	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:120438853_120438854CC>TT	uc001eij.3	-	0	294_295	c.106_107GG>AA	c.(106-108)ggg>AAg	p.G36K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	36					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G36W(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTCAAACTCCCCTTCAGGGTGA	0.500000														292			213		0	0	0.004672	0	0
FAT2	2196	broad.mit.edu	37	5	150946913	150946913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:150946913C>T	uc003lue.4	-	0	1593	c.1580G>A	c.(1579-1581)aGa>aAa	p.R527K	FAT2_uc010jhx.1_Missense_Mutation_p.R527K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	527	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R527I(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTATAAATTCTTTTCATGAG	0.463000														48			38		0	0	0.009718	0	0
SELE	6401	broad.mit.edu	37	1	169699598	169699599	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:169699598_169699599CC>TT	uc001ggm.4	-	4	846_847	c.689_690GG>AA	c.(688-690)tgg>tAA	p.W230*	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	230	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TAGGAGCACTCCATTCTCCAGA	0.460000														119			36		0	0	0.004672	0	0
EPHA6	285220	broad.mit.edu	37	3	96706498	96706498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:96706498C>T	uc010how.1	+	2	818	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	EPHA6_uc003drp.1_Missense_Mutation_p.R259C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	164						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R165S(2)|p.R259S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTGGGTGATCGCATCCTCAA	0.443000														148			113		0	0	0.014410	0	0
OTOL1	131149	broad.mit.edu	37	3	161221358	161221358	+	Silent	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:161221358T>C	uc011bpb.2	+	3	1062	c.1062T>C	c.(1060-1062)ccT>ccC	p.P354P		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	354	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGCCATTTCCTCCTCCTAACA	0.493000														15			15		0	0	0.006122	0	0
MSH4	4438	broad.mit.edu	37	1	76313948	76313948	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:76313948C>T	uc001dhd.2	+	7	1332	c.1217C>T	c.(1216-1218)cCa>cTa	p.P406L		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	406					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GTCCAAATTCCAAAGCAAGAC	0.274000								Mismatch excision repair (MMR)						34			24		0	0	0.005443	0	0
TPTE	7179	broad.mit.edu	37	21	10914431	10914431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:10914431C>T	uc002yip.1	-	20	1656	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D412N|TPTE_uc002yir.1_Missense_Mutation_p.D392N|TPTE_uc010gkv.1_Missense_Mutation_p.D292N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	430	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTTTAGATCACGTACATAA	0.313000														30			5		0	0	0.001984	0	0
CLGN	1047	broad.mit.edu	37	4	141315179	141315179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:141315179C>T	uc011chi.2	-	11	1384	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	CLGN_uc003iii.3_Missense_Mutation_p.R389Q	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	389					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AGGAATTTTTCGAGGACTCCA	0.343000														20			13		0	0	0.002450	0	0
CAPN13	92291	broad.mit.edu	37	2	30959436	30959436	+	Splice_Site	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:30959436A>C	uc021vfn.1	-	17	1686	c.1654_splice	c.e17-1	p.L552_splice	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Splice_Site_p.L548_splice	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	552	EF-hand 1.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATTCACTTTCAGCTGGGTAAG	0.552000														35			18		0	0	0.008871	0	0
MARCO	8685	broad.mit.edu	37	2	119727733	119727733	+	Silent	SNP	C	T	T	rs75633112		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:119727733C>T	uc002tln.1	+	2	375	c.243C>T	c.(241-243)ttC>ttT	p.F81F	MARCO_uc010yyf.1_Silent_p.F3F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	81					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGATGTATTTCCTCAATGACA	0.582000														45			27		0	0	0.009535	0	0
MUC2	4583	broad.mit.edu	37	11	1093803	1093803	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:1093803C>T	uc001lsx.1	+	31	5637	c.5610C>T	c.(5608-5610)acC>acT	p.T1870T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1952						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTCAACCACCCTTCTGAGTA	0.617000														127			81		0	0	0.014410	0	0
FLNB	2317	broad.mit.edu	37	3	58109178	58109178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:58109178G>A	uc003djj.2	+	20	3650	c.3485G>A	c.(3484-3486)gGa>gAa	p.G1162E	FLNB_uc010hne.2_Missense_Mutation_p.G1162E|FLNB_uc003djk.2_Missense_Mutation_p.G1162E|FLNB_uc010hnf.2_Missense_Mutation_p.G1162E|FLNB_uc003djl.2_Missense_Mutation_p.G993E|FLNB_uc003djm.2_Missense_Mutation_p.G993E	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1162	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCGGAAGCGGGACCGGGGGCC	0.607000														56			36		0	0	0.006999	0	0
IL28B	282617	broad.mit.edu	37	19	39734691	39734691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:39734691G>A	uc010xut.2	-	2	367	c.365C>T	c.(364-366)cCc>cTc	p.P122L	IL28B_uc010xuu.2_Missense_Mutation_p.P122L	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	122					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGTGAAGGGGCTGGTCCAA	0.667000														42			36		0	0	0.004878	0	0
CSMD3	114788	broad.mit.edu	37	8	113314061	113314061	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:113314061A>C	uc003ynu.3	-	52	8560	c.8401T>G	c.(8401-8403)Tcc>Gcc	p.S2801A	CSMD3_uc003yns.3_Missense_Mutation_p.S2003A|CSMD3_uc003ynt.3_Missense_Mutation_p.S2761A|CSMD3_uc011lhx.2_Missense_Mutation_p.S2632A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2801	Sushi 17.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACCTGAGGAAAGGCATTCC	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				33			18		0	0	0.014323	0	0
AKAP9	10142	broad.mit.edu	37	7	91714235	91714235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:91714235C>T	uc003ulg.3	+	34	9038	c.8813C>T	c.(8812-8814)tCc>tTc	p.S2938F	AKAP9_uc003ulf.3_Missense_Mutation_p.S2930F|AKAP9_uc003uli.3_Missense_Mutation_p.S2561F|AKAP9_uc003ulj.3_Missense_Mutation_p.S708F|AKAP9_uc003ulk.3_Missense_Mutation_p.S213F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2942					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCAACAGATTCCTTTCCAAAG	0.378000			T	BRAF	papillary thyroid									57			39		0	0	0.006230	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936821	74936821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:74936821C>T	uc002jti.3	+	12	1869	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F	MGAT5B_uc002jth.3_Missense_Mutation_p.S578F	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	580						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGTGTTCTCCCAGCATCCC	0.542000														55			102		0	0	0.014410	0	0
AK024141	0	broad.mit.edu	37	14	73079414	73079414	+	RNA	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:73079414C>T	uc010arh.1	-	0		c.390G>A								Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4.																		AGCTTTGCATCCCTTTGATAG	0.448000														6			9		0	0	0.004482	0	0
GPC5	2262	broad.mit.edu	37	13	92797119	92797119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:92797119G>A	uc010tif.2	+	6	1804	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	480						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGACAAGTGGGAACTTCTTCA	0.428000														24			14		0	0	0.003163	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	A	A	rs142743963	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:4869859G>A	uc010qyo.2	-	0	580	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAAACGAGCCACATCT	0.552000														57			48		0	0	0.014410	0	0
LPXN	9404	broad.mit.edu	37	11	58295604	58295604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:58295604G>A	uc001nmw.3	-	7	948	c.803C>T	c.(802-804)cCc>cTc	p.P268L	LPXN_uc009ymp.3_Missense_Mutation_p.P138L|LPXN_uc010rkj.2_Missense_Mutation_p.P273L|LPXN_uc010rkk.2_Missense_Mutation_p.P248L	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	268	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACCACACTTGGGTGAGAACAT	0.473000														73			46		0	0	0.014410	0	0
FLG2	388698	broad.mit.edu	37	1	152323795	152323795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:152323795C>T	uc001ezw.4	-	2	6540	c.6467G>A	c.(6466-6468)aGa>aAa	p.R2156K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2156							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCATGTCTAGTGGTATC	0.502000														421			112		0	0	0.014410	0	0
GCKR	2646	broad.mit.edu	37	2	27726407	27726407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:27726407C>T	uc002rky.3	+	8	737	c.671C>T	c.(670-672)tCa>tTa	p.S224L	GCKR_uc010ezd.3_Missense_Mutation_p.S224L|GCKR_uc010ylu.2_Missense_Mutation_p.S34L	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	224	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	p.S224*(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACTGGAGTTCAACATTCCGA	0.493000														21			13		0	0	0.003163	0	0
TGM5	9333	broad.mit.edu	37	15	43548859	43548859	+	Silent	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:43548859T>C	uc001zrd.2	-	3	470	c.462A>G	c.(460-462)gaA>gaG	p.E154E	TGM5_uc001zre.2_Silent_p.E72E	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	154					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCCTCTGGGGTTCACTGTCCA	0.522000														61			55		0	0	0.014410	0	0
WEE2	494551	broad.mit.edu	37	7	141420806	141420806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:141420806C>T	uc003vwn.2	+	4	1236	c.830C>T	c.(829-831)tCc>tTc	p.S277F	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	277	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CGTTACTATTCCTCATGGGCA	0.403000														61			32		0	0	0.013726	0	0
MGA	23269	broad.mit.edu	37	15	42050032	42050032	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:42050032C>T	uc010ucy.2	+	18	7367	c.7186C>T	c.(7186-7188)Cga>Tga	p.R2396*	MGA_uc010ucz.2_Nonsense_Mutation_p.R2187*|MGA_uc010uda.1_Nonsense_Mutation_p.R1012*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2357	Helix-loop-helix motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGAAAGGAGTCGAAAGGTATT	0.323000														33			28		0	0	0.004289	0	0
FRY	10129	broad.mit.edu	37	13	32722017	32722017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:32722017C>T	uc001utx.3	+	12	1821	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCCAAAGGGTCCCGCGGTGTG	0.463000														54			56		0	0	0.014410	0	0
CTNND2	1501	broad.mit.edu	37	5	11565168	11565168	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:11565168C>T	uc003jfa.1	-	3	320	c.175_splice	c.e3-1	p.E59_splice	CTNND2_uc010itt.2_Splice_Site|CTNND2_uc011cmy.1_Splice_Site|CTNND2_uc011cmz.1_Splice_Site|CTNND2_uc010itu.1_Splice_Site	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	59					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AACTGTAATTCCTGAAAGAAA	0.468000														19			11		0	0	0.008291	0	0
POU6F2	11281	broad.mit.edu	37	7	39504141	39504141	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:39504141G>A	uc003thb.2	+	10	2075	c.1932G>A	c.(1930-1932)ctG>ctA	p.L644L	POU6F2_uc022acb.1_Silent_p.L608L	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	644					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CTGAGAAGCTGAACTATGACC	0.502000														14			6		0	0	0.003080	0	0
CXADR	1525	broad.mit.edu	37	21	18937815	18937815	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:18937815C>T	uc002yki.3	+	6	1127	c.903C>T	c.(901-903)tcC>tcT	p.S301S	CXADR_uc002ykh.2_Missense_Mutation_p.P214L|CXADR_uc010gld.2_Missense_Mutation_p.P162L|CXADR_uc010gle.2_3'UTR|CXADR_uc021whp.1_Silent_p.S260S|CXADR_uc002ykj.2_Silent_p.S301S	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	301					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ATCATTCATCCCTGGGGTCCA	0.488000														40			30		0	0	0.007291	0	0
RPE65	6121	broad.mit.edu	37	1	68910229	68910229	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:68910229C>T	uc001dei.1	-	4	534	c.480G>A	c.(478-480)ttG>ttA	p.L160L		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	160					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TAATTGTCTCCAAGGTCTCTG	0.388000														58			36		0	0	0.006999	0	0
PSD4	23550	broad.mit.edu	37	2	113940600	113940600	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:113940600C>T	uc002tjc.3	+	1	750	c.567C>T	c.(565-567)ccC>ccT	p.P189P	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.P188P|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	189					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGTCTCCCCACGCCCCCTG	0.642000														28			23		0	0	0.014323	0	0
PIM2	11040	broad.mit.edu	37	X	48771762	48771762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:48771762G>A	uc004dls.3	-	4	984	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	228	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						ATGTCATAGAGGAGGATGCCC	0.592000														3			30		0	0	0.012213	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95600017	95600017	+	RNA	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:95600017G>A	uc004ass.2	+	8		c.2101G>A			ANKRD19P_uc004asr.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 19, pseudogene (ANKRD19P), non-coding RNA.																		GACACCTGAGGAAAGGGTACT	0.393000														4			5		0	0	0.000602	0	0
ZNF99	7652	broad.mit.edu	37	19	22941052	22941052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:22941052C>T	uc021urt.1	-	3	1814	c.1659G>A	c.(1657-1659)atG>atA	p.M553I		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTATGTTTCATAAGGGTTG	0.333000														33			26		0	0	0.007291	0	0
MBD5	55777	broad.mit.edu	37	2	149221445	149221445	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:149221445C>T	uc002twm.4	+	7	1351	c.354C>T	c.(352-354)gcC>gcT	p.A118A	MBD5_uc010zbs.2_Non-coding_Transcript	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	118						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCATGGAAGCCCCACATCCTT	0.443000														34			13		0	0	0.013537	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554608	44554608	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:44554608T>A	uc010xdb.2	-	0	1842	c.1606A>T	c.(1606-1608)Att>Ttt	p.I536F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TAGTCTCGAATTGCCTTGGCC	0.597000														447			22		0	0	0.007291	0	0
RAF1	5894	broad.mit.edu	37	3	12660032	12660032	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:12660032C>T	uc003bxf.4	-	1	604	c.189G>A	c.(187-189)ccG>ccA	p.P63P	RAF1_uc011auu.2_Missense_Mutation_p.R19Q	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	63	RBD.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TTTGCTTGTTCGGCAAGAAAA	0.418000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					61			31		0	0	0.005524	0	0
MYO15A	51168	broad.mit.edu	37	17	18022448	18022448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:18022448C>T	uc021trm.1	+	0	553	c.334C>T	c.(334-336)Cca>Tca	p.P112S	MYO15A_uc021trl.1_Missense_Mutation_p.P112S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	112	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GATCCGCTTCCCAGGCCGCCG	0.612000														9			8		0	0	0.004482	0	0
TM4SF5	9032	broad.mit.edu	37	17	4685877	4685877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:4685877G>A	uc002fyw.1	+	2	369	c.338G>A	c.(337-339)cGa>cAa	p.R113Q		NM_003963	NP_003954	O14894	T4S5_HUMAN	Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA.	113						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GCTGGGCTCCGAAATGGACCC	0.577000														37			18		0	0	0.007413	0	0
PLIN4	729359	broad.mit.edu	37	19	4513543	4513543	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:4513543G>A	uc002mar.1	-	2	387	c.387C>T	c.(385-387)gtC>gtT	p.V129V	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	129	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCCCTGTGACCCCGCTGG	0.657000														14			7		0	0	0.003080	0	0
HOXB4	3214	broad.mit.edu	37	17	46655307	46655307	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:46655307G>A	uc002inp.3	-	0	437	c.375C>T	c.(373-375)aaC>aaT	p.N125N	HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Intron|HOXB3_uc010dbg.3_Intron|HOXB3_uc010wlk.2_5'Flank|HOXB3_uc010wll.2_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	Homo sapiens homeobox B4 (HOXB4), mRNA.	125	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GGTGCAGGGGGTTCTGGGCGC	0.751000														20			40		0	0	0.013114	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128209	68128209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:68128209C>T	uc002jiq.3	+	2	217	c.77C>T	c.(76-78)tCc>tTc	p.S26F	KCNJ16_uc002jin.3_5'UTR|KCNJ16_uc002jio.3_5'UTR|KCNJ16_uc002jip.3_5'UTR|KCNJ16_uc021uch.1_5'Flank	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	0					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TCACCTGGATCCCTAAGGGCA	0.408000														19			20		0	0	0.002780	0	0
FFAR3	2865	broad.mit.edu	37	19	35850639	35850639	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:35850639T>C	uc002nzd.3	+	1	922	c.847T>C	c.(847-849)Ttc>Ctc	p.F283L	FFAR3_uc021usm.1_Missense_Mutation_p.F283L	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	283						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCCTCCGGGTTCCAAGCCGA	0.592000														64			13		0	0	0.008871	0	0
SEC14L3	266629	broad.mit.edu	37	22	30860826	30860826	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr22:30860826C>T	uc003ahy.3	-	7	734	c.645G>A	c.(643-645)agG>agA	p.R215R	SEC14L3_uc003ahz.3_Silent_p.R138R|SEC14L3_uc003aia.3_Silent_p.R156R|SEC14L3_uc003aib.3_Silent_p.R156R	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	215	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CAATAATTTTCCTGCGAGTGT	0.458000														76			64		0	0	0.014410	0	0
SPNS3	201305	broad.mit.edu	37	17	4348463	4348463	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:4348463G>A	uc002fxt.3	+	3	446	c.402_splice	c.e3+1	p.R134_splice	SPNS3_uc002fxu.3_Intron	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	134					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCTCCCCCCGGGTACGTGTCC	0.627000														35			14		0	0	0.004007	0	0
SLC26A7	115111	broad.mit.edu	37	8	92301455	92301455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:92301455G>A	uc003yez.3	+	2	524	c.285G>A	c.(283-285)atG>atA	p.M95I	SLC26A7_uc003yex.3_Missense_Mutation_p.M95I|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.M95I	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	95						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TATTTGGAATGGGACATCATG	0.388000														70			43		0	0	0.014410	0	0
TRAK1	22906	broad.mit.edu	37	3	42234641	42234641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:42234641G>A	uc003cky.3	+	7	1060	c.844G>A	c.(844-846)Gag>Aag	p.E282K	TRAK1_uc011azh.2_Missense_Mutation_p.E282K|TRAK1_uc011azi.2_Missense_Mutation_p.E282K|TRAK1_uc003ckz.4_Missense_Mutation_p.E208K|TRAK1_uc011azj.2_Missense_Mutation_p.E208K|TRAK1_uc003cla.3_Missense_Mutation_p.E224K	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	282	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCGCCAGCAAGAGGAGATCAC	0.468000														52			37		0	0	0.005524	0	0
GPATCH1	55094	broad.mit.edu	37	19	33579090	33579090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:33579090G>A	uc002nug.1	+	1	438	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	42						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGTCAGAGATGAAAAAGGAAG	0.363000														40			17		0	0	0.004007	0	0
APOM	55937	broad.mit.edu	37	6	31623783	31623783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:31623783G>A	uc003nvl.3	+	0	113	c.40G>A	c.(40-42)Ggt>Agt	p.G14S	APOM_uc003nvk.3_Intron	NM_019101	NP_061974	O95445	APOM_HUMAN	Homo sapiens apolipoprotein M (APOM), transcript variant 1, mRNA.	14				MFHQIWAALLYFYGIILNSIYQCPEHSQLTTLGVDGKE -> RFPDSIWGSRSDTSGSPQVPKLYFCGARRESPQPQT (in Ref. 3; AAF29014).	cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						CTACTTCTATGGTATTATCCT	0.532000														21			99		0	0	0.014410	0	0
SCN8A	6334	broad.mit.edu	37	12	52200262	52200262	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:52200262C>T	uc001ryw.3	+	26	5170	c.4992C>T	c.(4990-4992)atC>atT	p.I1664I	SCN8A_uc010snl.2_Silent_p.I1623I	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1664					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCATGTTCATCTTCTCCATTT	0.473000														69			48		0	0	0.014410	0	0
ZNF107	51427	broad.mit.edu	37	7	64167242	64167242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:64167242C>T	uc003ttd.3	+	6	1346	c.560C>T	c.(559-561)cCc>cTc	p.P187L	ZNF107_uc003tte.3_Missense_Mutation_p.P187L	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAAGAGAAACCCAACAAATGT	0.368000														39			21		0	0	0.010504	0	0
NRXN1	9378	broad.mit.edu	37	2	50758484	50758484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:50758484G>A	uc021vhh.1	-	9	3149	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F	NRXN1_uc002rxb.4_Missense_Mutation_p.S415F|NRXN1_uc021vhg.1_Missense_Mutation_p.S783F|NRXN1_uc021vhi.1_Missense_Mutation_p.S779F|NRXN1_uc021vhj.1_Missense_Mutation_p.S739F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	743	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAACCGTAAGGAAACATCCTC	0.512000														9			14		0	0	0.002450	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476146	161476146	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:161476146G>A	uc001gan.3	+	2	182	c.129G>A	c.(127-129)ctG>ctA	p.L43L	FCGR2A_uc001gam.3_Silent_p.L42L|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	43	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGCTGTGCTGAAACTTGAGC	0.587000														90			38		0	0	0.007835	0	0
FBXL3	26224	broad.mit.edu	37	13	77595986	77595986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:77595986C>T	uc001vkd.3	-	1	381	c.10G>A	c.(10-12)Gga>Aga	p.G4R		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 3 (FBXL3), mRNA.	4					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|regulation of circadian rhythm|rhythmic process	SCF ubiquitin ligase complex|cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCTCTTCCTCCTCGTTTCATC	0.378000														57			43		0	0	0.009718	0	0
PAPPA	5069	broad.mit.edu	37	9	118997703	118997703	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:118997703C>G	uc004bjn.3	+	6	2900	c.2519C>G	c.(2518-2520)aCc>aGc	p.T840S	PAPPA_uc011lxp.1_Missense_Mutation_p.T535S|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	840					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTCCCACTGACCATCAGACTC	0.532000														14			8		0	0	0.004482	0	0
FSHR	2492	broad.mit.edu	37	2	49190986	49190986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:49190986C>T	uc002rww.3	-	9	1084	c.974G>A	c.(973-975)gGa>gAa	p.G325E	FSHR_uc010fbn.3_Missense_Mutation_p.G299E|FSHR_uc002rwx.3_Missense_Mutation_p.G263E	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	325					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CATGTCAAATCCTCTGCTGTA	0.443000									Gonadal Dysgenesis, 46 XX					73			47		0	0	0.014410	0	0
ALG2	85365	broad.mit.edu	37	9	101980728	101980729	+	Silent	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:101980728_101980729GG>AA	uc004azf.3	-	1	808_809	c.738_739CC>TT	c.(736-741)gcccta>gcTTta	p.246_247AL>AL	ALG2_uc004azg.3_Silent_p.153_154AL>AL	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA.	246					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity	p.A246A(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				AGCTGTACTAGGGCTTCCAGTG	0.485000														97			53		0	0	0.004672	0	0
RASSF9	9182	broad.mit.edu	37	12	86199418	86199418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:86199418G>A	uc001taf.1	-	1	709	c.370C>T	c.(370-372)Cct>Tct	p.P124S		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	124					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCCACAAAGGAACTGGAAGA	0.438000														106			70		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179457237	179457237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179457237C>T	uc021vsy.1	-	249	52016	c.51791G>A	c.(51790-51792)aGa>aAa	p.R17264K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10959K|TTN_uc021vta.1_Missense_Mutation_p.R10892K|TTN_uc021vtb.1_Missense_Mutation_p.R10767K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18191	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R10959K(1)|p.R17262K(1)|p.R10767K(1)|p.R10892K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATCAATTCTTGCTTTAGT	0.403000														154			107		0	0	0.014410	0	0
INF2	64423	broad.mit.edu	37	14	105175702	105175702	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:105175702C>T	uc001ypb.2	+	10	2177	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	INF2_uc001ypc.2_Silent_p.L678L|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	678	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCTTAAGCTCCTTCCCGAGA	0.602000														24			7		0	0	0.003080	0	0
PDE11A	50940	broad.mit.edu	37	2	178936668	178936668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:178936668G>A	uc002ulq.3	-	0	815	c.497C>T	c.(496-498)cCc>cTc	p.P166L	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	166					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.P165L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GGCTGTGGTGGGGGGCAGGGA	0.572000									Primary Pigmented Nodular Adrenocortical Disease, Familial					42			30		0	0	0.010818	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677206	7677206	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:7677206G>A	uc002mgu.4	+	12	2009	c.1908G>A	c.(1906-1908)gaG>gaA	p.E636E	CAMSAP3_uc002mgv.4_Silent_p.E609E|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	609					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GGCTGGAGGAGAAACGCAGAG	0.687000														16			3		0	0	0.009096	0	0
OR4N2	390429	broad.mit.edu	37	14	20296115	20296115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:20296115G>A	uc010tkv.2	+	0	508	c.508G>A	c.(508-510)Ggc>Agc	p.G170S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTTTTTGTGGCCCAAACCA	0.522000														83			49		0	0	0.014410	0	0
STARD13	90627	broad.mit.edu	37	13	33684994	33684994	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:33684994C>T	uc001uuw.3	-	10	2784	c.2658G>A	c.(2656-2658)gaG>gaA	p.E886E	STARD13_uc001uuu.3_Silent_p.E878E|STARD13_uc001uuv.3_Silent_p.E768E|STARD13_uc001uux.3_Silent_p.E851E	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	886					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCACGTGGATCTCAGCCTCCA	0.547000														21			26		0	0	0.009535	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415166	213415166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:213415166C>T	uc010ptr.2	+	10	2506	c.2347C>T	c.(2347-2349)Cat>Tat	p.H783Y	RPS6KC1_uc001hkd.3_Missense_Mutation_p.H771Y|RPS6KC1_uc010pts.2_Missense_Mutation_p.H571Y|RPS6KC1_uc010ptt.2_Missense_Mutation_p.H571Y|RPS6KC1_uc010ptu.2_Missense_Mutation_p.H602Y|RPS6KC1_uc010ptv.2_Missense_Mutation_p.H318Y|RPS6KC1_uc001hke.3_Missense_Mutation_p.H602Y	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	783					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGCTGTTGATCATAGTAGTTC	0.438000														50			39		0	0	0.009718	0	0
GPR98	84059	broad.mit.edu	37	5	89938520	89938520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:89938520G>A	uc003kju.3	+	11	2404	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	770					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGGAAAATGATGACCCTGG	0.408000														74			45		0	0	0.013114	0	0
FMN2	56776	broad.mit.edu	37	1	240371651	240371651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:240371651C>T	uc010pye.2	+	5	3776	c.3551C>T	c.(3550-3552)cCt>cTt	p.P1184L	FMN2_uc010pyd.2_Missense_Mutation_p.P1180L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1180	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCTACCTGGAGTGGGA	0.687000														14			33		0	0	0.013114	0	0
TANC2	26115	broad.mit.edu	37	17	61499089	61499089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:61499089G>A	uc002jal.4	+	24	5769	c.5746G>A	c.(5746-5748)Gag>Aag	p.E1916K	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.E1027K	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1916							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCATTTGCTGGAGGACGATTA	0.532000														25			52		0	0	0.014410	0	0
ERCC4	2072	broad.mit.edu	37	16	14041765	14041765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:14041765C>T	uc002dce.2	+	10	2321	c.2312C>T	c.(2311-2313)tCc>tTc	p.S771F	ERCC4_uc010uyz.1_Missense_Mutation_p.S321F	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	771	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCTCTCACTTCCCGAGGTGCC	0.522000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					67			43		0	0	0.014410	0	0
PTPN3	5774	broad.mit.edu	37	9	112166832	112166832	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:112166832C>A	uc004bed.2	-	18	1961	c.1849G>T	c.(1849-1851)Gaa>Taa	p.E617*	PTPN3_uc004beb.2_Nonsense_Mutation_p.E486*|PTPN3_uc004bec.2_Nonsense_Mutation_p.E441*|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Nonsense_Mutation_p.E572*|PTPN3_uc011lwh.1_Nonsense_Mutation_p.E463*|PTPN3_uc011lwd.1_Nonsense_Mutation_p.E85*|PTPN3_uc011lwe.1_Nonsense_Mutation_p.E330*|PTPN3_uc011lwf.1_Nonsense_Mutation_p.E285*	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	617					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						Aaaatggcttcggggaaaagc	0.517000														44			42		4.01765e-15	4.27341e-15	0.009718	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28337755	28337755	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:28337755A>C	uc002ymg.3	-	0	1685	c.956T>G	c.(955-957)gTg>gGg	p.V319G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	319	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCCTAGCACCACCACCTTCAC	0.577000														51			36		0	0	0.006230	0	0
CSMD1	64478	broad.mit.edu	37	8	2823345	2823345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:2823345G>A	uc022aqr.1	-	58	9622	c.9232C>T	c.(9232-9234)Cgc>Tgc	p.R3078C	CSMD1_uc011kwj.2_Missense_Mutation_p.R2408C|CSMD1_uc010lrg.3_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3079	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGGTACAGCGAATAGTGGCG	0.458000														7			6		0	0	0.001984	0	0
USP19	10869	broad.mit.edu	37	3	49155249	49155249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:49155249G>A	uc003cwd.2	-	3	632	c.313C>T	c.(313-315)Cct>Tct	p.P105S	USP19_uc003cwa.3_Intron|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.P105S|USP19_uc011bcg.2_Missense_Mutation_p.P105S|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Missense_Mutation_p.P105S|USP19_uc011bci.2_Intron	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	105					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGATCATGAGGGTCTTCACAA	0.527000														21			8		0	0	0.003080	0	0
FREM1	158326	broad.mit.edu	37	9	14750169	14750169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:14750169C>T	uc003zlm.3	-	30	6329	c.5513G>A	c.(5512-5514)gGc>gAc	p.G1838D	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.G374D	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1838					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTCTTTGTGCCAAGAACTGC	0.418000														69			44		0	0	0.014410	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200907	23200907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:23200907G>A	uc002dlm.1	+	2	672	c.533G>A	c.(532-534)aGg>aAg	p.R178K		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	178			R -> W.		excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity	p.G177W(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTCACAGGGAGGAAGCGGAAA	0.517000														145			70		0	0	0.014410	0	0
COL17A1	1308	broad.mit.edu	37	10	105795286	105795286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:105795286C>T	uc001kxr.3	-	48	3623	c.3454G>A	c.(3454-3456)Ggg>Agg	p.G1152R		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1152	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCAGGGGGCCCCGGGGGACCA	0.617000														17			9		0	0	0.006214	0	0
TUBB6	84617	broad.mit.edu	37	18	12325671	12325671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:12325671G>A	uc002kqw.3	+	3	918	c.883G>A	c.(883-885)Gac>Aac	p.D295N	TUBB6_uc002kqv.3_Missense_Mutation_p.D223N|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	295					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GCAGATGTTCGACGCCAGGAA	0.682000														36			10		0	0	0.008291	0	0
ITGB2	3689	broad.mit.edu	37	21	46326910	46326910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:46326910C>T	uc002zgd.2	-	2	292	c.248G>A	c.(247-249)aGc>aAc	p.S83N	ITGB2_uc002zgf.3_Missense_Mutation_p.S83N|ITGB2_uc011afl.1_Missense_Mutation_p.S5N|ITGB2_uc010gpw.2_Missense_Mutation_p.S83N|ITGB2_uc002zgg.2_Missense_Mutation_p.S83N	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	83					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCAGCGAGGCTTGTGGGGTC	0.612000														53			36		0	0	0.004878	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575018	120575018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:120575018G>A	uc001txo.3	-	49	6782	c.6769C>T	c.(6769-6771)Ccg>Tcg	p.P2257S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2257					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.P2257Q(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTTCTTCGGGAGGCAGAAT	0.607000														54			40		0	0	0.010771	0	0
ADAM28	10863	broad.mit.edu	37	8	24199208	24199208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:24199208C>T	uc003xdy.3	+	15	1851	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.P277S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	590	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AACATTTGATCCTGAAGACAC	0.423000														65			50		0	0	0.014410	0	0
GPC4	2239	broad.mit.edu	37	X	132445398	132445398	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:132445398G>A	uc004exc.1	-	3	977	c.765C>T	c.(763-765)tcC>tcT	p.S255S	GPC4_uc011mvg.1_Silent_p.S185S	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	255					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CCCGGCAGTGGGAGCAGTAGA	0.483000														12			48		0	0	0.014410	0	0
AMPD1	270	broad.mit.edu	37	1	115219982	115219982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:115219982G>A	uc001efe.2	-	9	1525	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	AMPD1_uc001eff.2_Missense_Mutation_p.P489S	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	460					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TAGATCCTGGGAACCTGGATC	0.522000														42			17		0	0	0.006122	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48598488	48598488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:48598488G>A	uc010wmr.2	+	7	1225	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	318					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGCCCAGAGGGACGCTTCATA	0.567000														10			10		0	0	0.010729	0	0
PTPRC	5788	broad.mit.edu	37	1	198701456	198701456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:198701456C>T	uc001gur.1	+	18	2176	c.1996C>T	c.(1996-1998)Cct>Tct	p.P666S	PTPRC_uc001gut.1_Missense_Mutation_p.P505S|PTPRC_uc009wzf.1_Missense_Mutation_p.P554S|PTPRC_uc021pgy.1_Missense_Mutation_p.P620S|PTPRC_uc010ppg.1_Missense_Mutation_p.P602S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	666	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGCAAGTTTCCTATAAAGGA	0.393000														81			20		0	0	0.002780	0	0
C9orf174	100499483	broad.mit.edu	37	9	100071748	100071749	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:100071748_100071749CT>TA	uc011lut.2	+	16	1677_1678	c.671_672CT>TA	c.(670-672)tct>tTA	p.S224L	C9orf174_uc004axe.2_Missense_Mutation_p.S224L|C9orf174_uc011lus.2_Missense_Mutation_p.S85L|C9orf174_uc004axg.2_Missense_Mutation_p.S85L|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.S85L|C9orf174_uc011luv.1_Missense_Mutation_p.S85L	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	224						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						GCAGAGCGTTCTGTGACCCTGA	0.609000														30			22		0	0	0.004672	0	0
CRP	1401	broad.mit.edu	37	1	159683428	159683428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:159683428C>T	uc001ftw.3	-	1	666	c.562G>A	c.(562-564)Gag>Aag	p.E188K	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	188	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GTGTTAATCTCATCTGGTGAC	0.517000														211			54		0	0	0.014410	0	0
CCZ1	51622	broad.mit.edu	37	7	5949727	5949727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:5949727C>T	uc003spf.3	+	7	850	c.760C>T	c.(760-762)Cca>Tca	p.P254S		NM_015622	NP_932765	P86790	CCZ1L_HUMAN	Homo sapiens CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) (CCZ1), mRNA.	254						lysosomal membrane				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						CTCCCTTTTTCCAAGGCACAT	0.473000														49			30		0	0	0.004878	0	0
GMFG	9535	broad.mit.edu	37	19	39820263	39820263	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:39820263G>A	uc002okz.4	-	4	314	c.204C>T	c.(202-204)ttC>ttT	p.F68F	GMFG_uc002okx.4_Silent_p.F68F	NM_004877	NP_004868	O60234	GMFG_HUMAN	Homo sapiens glia maturation factor, gamma (GMFG), mRNA.	68	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTAAACCACGAACCTACCGT	0.512000														21			13		0	0	0.001855	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350076	134350076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:134350076C>T	uc004can.4	+	14	2615	c.2560C>T	c.(2560-2562)Cca>Tca	p.P854S	PRRC2B_uc010mzj.1_Missense_Mutation_p.P437S|PRRC2B_uc004cao.4_Missense_Mutation_p.P212S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	854							protein binding	p.P854L(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGTGTTCCCCATTGGAGCC	0.527000														8			12		0	0	0.001855	0	0
NCOA1	8648	broad.mit.edu	37	2	24920556	24920556	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:24920556C>T	uc002rfk.3	+	8	1097	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	NCOA1_uc010eye.3_Silent_p.L280L|NCOA1_uc002rfi.3_Silent_p.L129L|NCOA1_uc002rfj.3_Silent_p.L280L|NCOA1_uc002rfl.3_Silent_p.L280L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	280									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTAGTTCCCTGAGAGCTGC	0.368000			T	PAX3	alveolar rhadomyosarcoma									17			17		0	0	0.006122	0	0
FLG	2312	broad.mit.edu	37	1	152278879	152278879	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:152278879G>T	uc001ezu.1	-	2	8519	c.8483C>A	c.(8482-8484)tCc>tAc	p.S2828Y		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2828	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCCACGGGAGGCATCAGA	0.577000									Ichthyosis					445			170		1.63516e-101	1.75054e-101	0.014410	1	0
MORC1	27136	broad.mit.edu	37	3	108818307	108818307	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:108818307G>A	uc003dxl.3	-	5	408	c.321C>T	c.(319-321)tcC>tcT	p.S107S	MORC1_uc011bhn.2_Silent_p.S107S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	107					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAATTCTCATGGACCCACTAT	0.353000														18			16		0	0	0.003163	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796672	21796672	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21796672G>A	uc001wag.3	+	17	2985	c.2985G>A	c.(2983-2985)aaG>aaA	p.K995K	RPGRIP1_uc001wah.3_Silent_p.K637K|RPGRIP1_uc001wai.3_Silent_p.K321K|RPGRIP1_uc001wak.3_Silent_p.K470K|RPGRIP1_uc010aim.3_Silent_p.K378K|RPGRIP1_uc001wal.3_Silent_p.K354K|RPGRIP1_uc001wam.3_Silent_p.K312K	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	995	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAAAGGAGAAGGAGCACCAGG	0.423000														39			26		0	0	0.005443	0	0
USP6	9098	broad.mit.edu	37	17	5076225	5076225	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:5076225G>A	uc002gau.1	+	37	6403	c.4173G>A	c.(4171-4173)acG>acA	p.T1391T	USP6_uc002gav.1_Silent_p.T1391T|USP6_uc010ckz.1_Silent_p.T1074T	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1391					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAAGCAGTACGGATGAAGACT	0.468000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									43			29		0	0	0.006320	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093368	30093368	+	RNA	SNP	C	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:30093368C>G	uc010dmc.3	+	0		c.1743C>G								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TTGGTACCTCCCCTTGGGATC	0.488000														27			12		0	0	0.001855	0	0
RAI1	10743	broad.mit.edu	37	17	17699012	17699012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:17699012C>T	uc002grm.3	+	2	3219	c.2750C>T	c.(2749-2751)cCg>cTg	p.P917L	RAI1_uc002grn.1_Missense_Mutation_p.P917L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	917						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGGGGCTCTCCGTGCCACCTC	0.632000														18			14		0	0	0.003163	0	0
ARFIP1	27236	broad.mit.edu	37	4	153750825	153750825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:153750825C>T	uc003imz.3	+	1	316	c.40C>T	c.(40-42)Cca>Tca	p.P14S	ARFIP1_uc003inb.3_Missense_Mutation_p.P14S|ARFIP1_uc003ina.3_Missense_Mutation_p.P14S|ARFIP1_uc003inc.3_Missense_Mutation_p.P14S|ARFIP1_uc011cij.2_Missense_Mutation_p.P14S	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	14					intracellular protein transport|regulation of protein secretion	Golgi membrane|cytosol			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					AGCAGAAATTCCAGTGACTAG	0.363000														80			47		0	0	0.014410	0	0
TRPM1	4308	broad.mit.edu	37	15	31358298	31358298	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:31358298G>A	uc021sia.1	-	5	1136	c.822C>T	c.(820-822)tcC>tcT	p.S274S	TRPM1_uc010azy.3_Silent_p.S148S|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.S257S|TRPM1_uc001zfm.3_Silent_p.S235S|MIR211_uc010ubm.1_5'Flank	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	235					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCTTCTGCAGGGAGATGTGCT	0.547000														54			41		0	0	0.009718	0	0
PTPRO	5800	broad.mit.edu	37	12	15636986	15636986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:15636986C>T	uc001rcv.2	+	1	624	c.154C>T	c.(154-156)Cca>Tca	p.P52S	PTPRO_uc001rcw.2_Missense_Mutation_p.P52S|PTPRO_uc001rcu.2_Missense_Mutation_p.P52S	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	52	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CGTCATCAGTCCAGCATCTGT	0.363000														45			27		0	0	0.004656	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74365120	74365120	+	Silent	SNP	T	C	C	rs150515307		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:74365120T>C	uc002axa.1	-	12	1505	c.1464A>G	c.(1462-1464)ctA>ctG	p.L488L	DQ582073_uc021sqc.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	488								p.Q487*(1)|p.L488I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GCTGGGTCTCTAGCTGTTGGT	0.612000														81			12		0	0	0.003163	0	0
COL3A1	1281	broad.mit.edu	37	2	189850473	189850473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:189850473G>A	uc002uqj.1	+	3	533	c.416G>A	c.(415-417)gGa>gAa	p.G139E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	139					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCCCCCCTGGAATCTGTGAA	0.448000														27			21		0	0	0.003954	0	0
CBL	867	broad.mit.edu	37	11	119103291	119103291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr11:119103291G>A	uc001pwe.3	+	1	467	c.329G>A	c.(328-330)gGa>gAa	p.G110E		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	110	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GAGACACTTGGAGAAAATGAG	0.398000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					13			20		0	0	0.010504	0	0
CNTN6	27255	broad.mit.edu	37	3	1414564	1414564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:1414564C>T	uc003boz.3	+	13	1978	c.1711C>T	c.(1711-1713)Cat>Tat	p.H571Y	CNTN6_uc011asj.2_Missense_Mutation_p.H499Y|CNTN6_uc003bpa.3_Missense_Mutation_p.H571Y	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	571	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCAGTTACATCATTCAGGAAA	0.368000														52			42		0	0	0.013114	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623343	21623343	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:21623343G>A	uc010tlp.2	-	0	842	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S281S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GCCCTGGGCCGAGCTCATTTT	0.488000														19			10		0	0	0.008291	0	0
DDX60L	91351	broad.mit.edu	37	4	169362542	169362542	+	Missense_Mutation	SNP	G	A	A	rs34420455		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:169362542G>A	uc021xuh.1	-	8	1350	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	DDX60L_uc003irq.4_Missense_Mutation_p.P414S|DDX60L_uc003irr.1_Missense_Mutation_p.P414S|DDX60L_uc003irs.1_Missense_Mutation_p.P141S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	414							ATP binding|ATP-dependent helicase activity|RNA binding	p.F413L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTCTCAGAGGAAAAGACTTT	0.373000														63			32		0	0	0.009535	0	0
POLG	5428	broad.mit.edu	37	15	89867054	89867055	+	Silent	DNP	GG	AT	AT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:89867054_89867055GG>AT	uc002bns.4	-	11	2430_2431	c.2148_2149CC>AT	c.(2146-2151)ccccta>ccATta	p.716_717PL>PL	POLG_uc002bnr.4_Silent_p.716_717PL>PL	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	716					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCAGAGCTAGGGGTTGACCTG	0.569000								DNA polymerases (catalytic subunits)						42			20		0	0	0.004672	0	0
DGUOK	1716	broad.mit.edu	37	2	74154162	74154162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:74154162C>T	uc002sjx.3	+	0	210	c.125C>T	c.(124-126)tCc>tTc	p.S42F	DGUOK_uc002sjy.3_Missense_Mutation_p.S42F|DGUOK_uc002sjz.3_Non-coding_Transcript	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						CGAAGGCTCTCCATCGAAGGC	0.667000														39			33		0	0	0.003271	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594906	31594906	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:31594906C>T	uc003nvb.4	+	10	1470	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Silent_p.A407A	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	407	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.A407A(2)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GACCTCCTGCCCCAAAGCCTC	0.652000														8			27		0	0	0.007291	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166711	180166711	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr5:180166711C>T	uc003mmf.1	-	0	348	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCATCACCACCAGGAGCA	0.607000														22			28		0	0	0.005443	0	0
HLA-A	3105	broad.mit.edu	37	6	29912168	29912168	+	Silent	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:29912168A>C	uc003nol.3	+	3	973	c.889A>C	c.(889-891)Aga>Cga	p.R297R	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_5'Flank|HLA-A_uc021ytz.1_Silent_p.R297R|HLA-A_uc010jrq.3_Silent_p.R176R|HLA-A_uc003nok.3_Silent_p.R176R|HLA-A_uc010klp.2_Silent_p.R269R|HLA-A_uc011dmc.2_Silent_p.R176R|HLA-A_uc011dmd.2_Silent_p.R176R|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	297	Alpha-3.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCTCACCCTGAGATGGGGTAA	0.597000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				56			34		0	0	0.004289	0	0
ABCA12	26154	broad.mit.edu	37	2	215802328	215802328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:215802328C>T	uc002vew.3	-	50	7668	c.7448G>A	c.(7447-7449)gGa>gAa	p.G2483E	ABCA12_uc002vev.3_Missense_Mutation_p.G2165E|ABCA12_uc010zjn.2_Missense_Mutation_p.G1410E	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2483	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GACAGTAAATCCTCGTCCAAA	0.363000														29			22		0	0	0.002780	0	0
RNF219	79596	broad.mit.edu	37	13	79191232	79191232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:79191232G>A	uc001vkw.1	-	5	723	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.L32F	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	222							zinc ion binding	p.A221fs*6(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTGGACTGAAGAGCAGCAACT	0.393000														37			28		0	0	0.009535	0	0
NOS1	4842	broad.mit.edu	37	12	117749355	117749355	+	Silent	SNP	C	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:117749355C>A	uc001twn.2	-	2	1479	c.768G>T	c.(766-768)gtG>gtT	p.V256V	NOS1_uc021reo.1_5'Flank|NOS1_uc001twm.2_Silent_p.V256V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	256					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTCGTTCTCCACGCCGAGGG	0.557000														38			24		3.28513e-13	3.49144e-13	0.003954	1	0
FAM113A	64773	broad.mit.edu	37	20	2816191	2816192	+	Missense_Mutation	DNP	GC	AA	AA	rs147076858		TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:2816191_2816192GC>AA	uc002wgz.1	-	7	1778_1779	c.1281_1282GC>TT	c.(1279-1284)cagcgg>caTTgg	p.427_428QR>HW	FAM113A_uc010zqa.1_Missense_Mutation_p.274_275QR>HW|FAM113A_uc002whc.1_Missense_Mutation_p.376_377QR>HW	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	427							hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						TGTCTGAGCCGCTGCCTGCAGG	0.624000														30			15		0	0	0.004672	0	0
LCN9	392399	broad.mit.edu	37	9	138557560	138557560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr9:138557560G>A	uc004cgk.1	+	4	437	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	146						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GAAAAGTACGGACTTGGCTCA	0.567000														16			13		0	0	0.003163	0	0
SOS2	6655	broad.mit.edu	37	14	50605391	50605391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:50605391G>A	uc001wxs.4	-	17	2995	c.2897C>T	c.(2896-2898)aCt>aTt	p.T966I	SOS2_uc010tql.2_Missense_Mutation_p.T933I|SOS2_uc010tqm.1_Non-coding_Transcript	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	966	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AATTTCTCCAGTAATTTCAGC	0.328000														31			33		0	0	0.004878	0	0
ATG16L1	55054	broad.mit.edu	37	2	234198983	234198983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:234198983C>T	uc002vty.3	+	13	1671	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	ATG16L1_uc021vyl.1_Missense_Mutation_p.R356C|ATG16L1_uc002vub.3_Missense_Mutation_p.R330C|ATG16L1_uc002vtz.3_Missense_Mutation_p.R293C|ATG16L1_uc002vud.4_Missense_Mutation_p.R388C|ATG16L1_uc002vua.3_Missense_Mutation_p.R453C|ATG16L1_uc002vtx.2_Missense_Mutation_p.R309C	NM_030803	NP_001177196	Q676U5	A16L1_HUMAN	Homo sapiens ATG16 autophagy related 16-like 1 (S. cerevisiae) (ATG16L1), transcript variant 1, mRNA.	472					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.R472C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CAAGAAAATTCGTTTCTGGGA	0.418000														41			21		0	0	0.012319	0	0
LILRB5	10990	broad.mit.edu	37	19	54754901	54754901	+	Silent	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:54754901T>C	uc010yer.1	-	12	1845	c.1734A>G	c.(1732-1734)gcA>gcG	p.A578A	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	378					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTCTTCTGCCTGTCTGT	0.587000														15			6		0	0	0.006214	0	0
BRD4	23476	broad.mit.edu	37	19	15366210	15366211	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:15366210_15366211GG>AA	uc002nar.3	-	9	2166_2167	c.1944_1945CC>TT	c.(1942-1947)aacccc>aaTTcc	p.P649S	BRD4_uc002nas.3_Missense_Mutation_p.P649S|BRD4_uc002nat.3_Missense_Mutation_p.P649S	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	649					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ATCTCGTCGGGGTTGGAATTCT	0.574000			T	C15orf55	lethal midline carcinoma of young people									32			18		0	0	0.004672	0	0
XIRP2	129446	broad.mit.edu	37	2	167760167	167760167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:167760167C>T	uc002udx.3	+	1	264	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	XIRP2_uc010fpn.3_Missense_Mutation_p.P59S|XIRP2_uc010fpo.3_Missense_Mutation_p.P59S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCTTTGGATCCCACAAGTCT	0.498000														21			14		0	0	0.003163	0	0
PRSS12	8492	broad.mit.edu	37	4	119203249	119203249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr4:119203249C>T	uc003ica.2	-	12	2517	c.2470G>A	c.(2470-2472)Gac>Aac	p.D824N		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	824	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCTCCGCTGTCTCCCTGGCAG	0.542000														37			29		0	0	0.008361	0	0
INTS1	26173	broad.mit.edu	37	7	1542572	1542572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:1542572G>A	uc003skn.2	-	2	415	c.314C>T	c.(313-315)cCg>cTg	p.P105L	INTS1_uc003skq.2_Missense_Mutation_p.P105L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	105					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TTTAATCGACGGAGAAATGGC	0.577000														79			62		0	0	0.014410	0	0
XDH	7498	broad.mit.edu	37	2	31569699	31569699	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:31569699T>C	uc002rnv.1	-	29	3366	c.3287A>G	c.(3286-3288)cAg>cGg	p.Q1096R		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1096					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAAGATGGTCTGACAAGCCGC	0.542000														57			53		0	0	0.014410	0	0
SACS	26278	broad.mit.edu	37	13	23915199	23915199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr13:23915199G>A	uc001uon.2	-	9	3405	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	SACS_uc001uoo.2_Missense_Mutation_p.S792F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	939					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTATAAGAGGAAATTCCCTG	0.363000														39			15		0	0	0.004990	0	0
CCBE1	147372	broad.mit.edu	37	18	57106807	57106807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr18:57106807G>A	uc002lib.3	-	8	989	c.919C>T	c.(919-921)Cca>Tca	p.P307S	CCBE1_uc010dpq.3_Missense_Mutation_p.P36S|CCBE1_uc002lia.3_Missense_Mutation_p.P160S	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	307	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GCCCCTGGTGGACCCTGTAAT	0.418000														97			85		0	0	0.014410	0	0
AXIN1	8312	broad.mit.edu	37	16	396889	396889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:396889G>A	uc002cgp.2	-	1	526	c.137C>T	c.(136-138)tCc>tTc	p.S46F	AXIN1_uc002cgq.2_Missense_Mutation_p.S46F	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	46					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				ACCTTTCCCGGAGCAGAAACT	0.627000														22			11		0	0	0.013537	0	0
SERPINA13	388007	broad.mit.edu	37	14	95111301	95111301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:95111301G>A	uc001ydt.3	+	3	1121	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						CAGAGAACTCGATTTCCACTT	0.557000														28			17		0	0	0.012319	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2505	2505	+	RNA	SNP	A	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrGL000237.1:2505A>C	uc011mgu.1	-	0		c.182T>G								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccagccccaatcctactgc	0.627000														23			4		0	0	0.001168	0	0
GANC	2595	broad.mit.edu	37	15	42632908	42632908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:42632908C>T	uc001zpi.3	+	17	2422	c.2108C>T	c.(2107-2109)cCt>cTt	p.P703L		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	703					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	p.P703H(2)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTAGAGTTCCCTGATGAACTA	0.323000														42			19		0	0	0.012319	0	0
NKAPL	222698	broad.mit.edu	37	6	28228056	28228056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr6:28228056G>A	uc003nkt.3	+	0	959	c.907G>A	c.(907-909)Ggt>Agt	p.G303S	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	303										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TTTGCTTCCCGGTGAAGGTGC	0.428000														13			67		0	0	0.014410	0	0
CDK14	5218	broad.mit.edu	37	7	90613509	90613509	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:90613509T>C	uc003uky.2	+	9	1216	c.994T>C	c.(994-996)Ttt>Ctt	p.F332L	CDK14_uc003ukz.1_Missense_Mutation_p.F314L|CDK14_uc010les.1_Missense_Mutation_p.F286L|CDK14_uc011khl.1_Missense_Mutation_p.F203L	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	332	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AGTTGCTGCTTTTCCAGGAAT	0.348000														75			58		0	0	0.014410	0	0
TIGIT	201633	broad.mit.edu	37	3	114014634	114014634	+	Missense_Mutation	SNP	G	A	A	rs146935299	by1000genomes	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr3:114014634G>A	uc003ebg.2	+	1	1059	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	102	Ig-like V-type.				negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	p.D102N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GACCGTGAACGATACAGGGGA	0.567000														43			18		0	0	0.012319	0	0
SLC6A17	388662	broad.mit.edu	37	1	110741021	110741021	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:110741021T>A	uc009wfq.3	+	11	2600	c.2139T>A	c.(2137-2139)taT>taA	p.Y713*		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	713					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ATGGACGCTATGGGAGCGGCT	0.667000														36			46		0	0	0.014410	0	0
SNTG2	54221	broad.mit.edu	37	2	1271289	1271289	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:1271289C>T	uc002qwq.3	+	13	1359	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	SNTG2_uc010ewi.3_Silent_p.A283A	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	410	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCGAGCTGGCCATGTGGGAGA	0.532000														29			11		0	0	0.001855	0	0
NPHP4	261734	broad.mit.edu	37	1	6046249	6046249	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:6046249A>T	uc001alq.2	-	1	369	c.101T>A	c.(100-102)gTc>gAc	p.V34D	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	34					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCACTTGAGGACACACTGGAA	0.522000														13			8		0	0	0.006214	0	0
MLXIPL	51085	broad.mit.edu	37	7	73009996	73009996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:73009996G>A	uc003tyn.1	-	14	2329	c.2281C>T	c.(2281-2283)Cgt>Tgt	p.R761C	MLXIPL_uc003tyj.1_Missense_Mutation_p.R140C|MLXIPL_uc003tyk.1_Missense_Mutation_p.R740C|MLXIPL_uc003tym.1_Missense_Mutation_p.R742C|MLXIPL_uc003tyl.1_Missense_Mutation_p.R759C|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.R667C	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	761					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCAGCGTACGGGTTCGGACG	0.632000														21			11		0	0	0.001855	0	0
CASS4	57091	broad.mit.edu	37	20	55027196	55027196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr20:55027196C>T	uc002xxp.2	+	5	1189	c.964C>T	c.(964-966)Cct>Tct	p.P322S	CASS4_uc002xxq.4_Missense_Mutation_p.P322S|CASS4_uc010zze.1_Missense_Mutation_p.P268S|CASS4_uc002xxr.2_Missense_Mutation_p.P322S|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	322					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGGCACATTTCCTTTGGATGA	0.448000														83			30		0	0	0.010818	0	0
STRA6	64220	broad.mit.edu	37	15	74487792	74487792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:74487792C>T	uc002axj.3	-	6	925	c.565G>A	c.(565-567)Gga>Aga	p.G189R	STRA6_uc002axi.3_Intron|STRA6_uc010ulh.2_Missense_Mutation_p.G188R|STRA6_uc002axk.3_Missense_Mutation_p.G150R|STRA6_uc002axl.3_Missense_Mutation_p.G82R|STRA6_uc010bji.3_Missense_Mutation_p.G150R|STRA6_uc021sqg.1_Missense_Mutation_p.G165R|STRA6_uc002axm.3_Missense_Mutation_p.G150R|STRA6_uc002axn.3_Missense_Mutation_p.G141R|STRA6_uc010uli.2_Missense_Mutation_p.G187R|STRA6_uc010bjj.1_Non-coding_Transcript|STRA6_uc010bjk.3_3'UTR	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	150					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TAGAACAGTCCCAGTATCTTC	0.627000														26			15		0	0	0.003163	0	0
MST4	51765	broad.mit.edu	37	X	131197486	131197486	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chrX:131197486A>G	uc004ewk.1	+	3	600	c.299A>G	c.(298-300)gAa>gGa	p.E100G	MST4_uc004ewl.1_Missense_Mutation_p.E23G|MST4_uc011mux.1_Missense_Mutation_p.E122G|MST4_uc010nrj.1_Missense_Mutation_p.E100G|MST4_uc004ewm.1_Missense_Mutation_p.E100G	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	100	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.E100*(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATAATAATGGAATACCTGGGC	0.318000														5			32		0	0	0.005524	0	0
CHFR	55743	broad.mit.edu	37	12	133434019	133434019	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:133434019G>A	uc001ulf.2	-	8	1158	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Silent_p.L317L|CHFR_uc001ule.2_Silent_p.L346L|CHFR_uc010tbs.1_Silent_p.L358L|CHFR_uc010tbt.1_Silent_p.L266L	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	358					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		ATGCTTCCACGAGGTTGTTGA	0.632000														37			22		0	0	0.002780	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962736	55962736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:55962736C>T	uc002ivd.1	-	1	909	c.190G>A	c.(190-192)Gac>Aac	p.D64N	CUEDC1_uc002ive.1_Missense_Mutation_p.D64N	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	64	CUE.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TCGATGATGTCGTAATCCATG	0.642000														95			5		0	0	0.001168	0	0
ACSM1	116285	broad.mit.edu	37	16	20682984	20682984	+	Silent	SNP	G	A	A			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr16:20682984G>A	uc002dhm.1	-	3	689	c.621C>T	c.(619-621)tcC>tcT	p.S207S	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.S207S	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	207					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGTGTTCTGGGGATGCTGATC	0.468000														37			32		0	0	0.009718	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238631	179238631	+	Silent	SNP	C	T	T			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:179238631C>T	uc002uly.3	+	15	2029	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	OSBPL6_uc002ulw.3_Silent_p.I403I|OSBPL6_uc002ulx.3_Silent_p.I470I|OSBPL6_uc010zfe.2_Silent_p.I439I|OSBPL6_uc002ulz.3_Silent_p.I434I|OSBPL6_uc002uma.3_Silent_p.I474I	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	470					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTGAGCAAATCCATGTCAGTC	0.453000														23			16		0	0	0.006122	0	0
HIPK1	204851	broad.mit.edu	37	1	114495410	114495410	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:114495410delT	uc001eem.3	+	2	1260	c.1099delT	c.(1099-1101)ttafs	p.L367fs	HIPK1_uc001eel.3_Frame_Shift_Del_p.L367fs|HIPK1_uc001een.3_Frame_Shift_Del_p.L367fs|HIPK1_uc001eeo.3_5'UTR|HIPK1_uc001eep.3_5'Flank	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	367	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATTCTTGGGTTACCATTTTG	0.358													---	47	---	---	24	---					
CSDE1	7812	broad.mit.edu	37	1	115276684	115276687	+	Frame_Shift_Del	DEL	AGTG	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:115276684_115276687delAGTG	uc001efi.3	-	8	1294_1297	c.772_775delCACT	c.(772-777)cactatfs	p.H258fs	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Frame_Shift_Del_p.H212fs|CSDE1_uc001efm.3_Frame_Shift_Del_p.H227fs|CSDE1_uc009wgv.3_Frame_Shift_Del_p.H212fs|CSDE1_uc001efl.3_Frame_Shift_Del_p.H181fs|CSDE1_uc001efn.3_Frame_Shift_Del_p.H181fs	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	212					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTCACTATAGTGAAAGAATATC	0.348													---	32	---	---	12	---					
NR1I3	9970	broad.mit.edu	37	1	161203046	161203058	+	Frame_Shift_Del	DEL	ACTCAGTTGCACA	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:161203046_161203058delACTCAGTTGCACA	uc001fzx.3	-	3	512_524	c.309_321delTGTGCAACTGAGT	c.(307-321)cctgtgcaactgagtfs	p.P103fs	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzm.3_Frame_Shift_Del_p.P28fs|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Frame_Shift_Del_p.P103fs|NR1I3_uc009wug.3_Splice_Site|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzw.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzz.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzh.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001gab.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001gac.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001fzp.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzg.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001gaa.3_Frame_Shift_Del_p.P103fs|NR1I3_uc001fzj.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001fzi.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001fzl.3_Frame_Shift_Del_p.P74fs|NR1I3_uc001fzk.3_Frame_Shift_Del_p.P74fs|NR1I3_uc010pkm.2_Frame_Shift_Del_p.P74fs|NR1I3_uc010pkn.1_Frame_Shift_Del_p.P103fs	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	103					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTTGCTCCTTACTCAGTTGCACAGGTGTTTGCT	0.577													---	110	---	---	40	---					
MPZL1	9019	broad.mit.edu	37	1	167741625	167741625	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:167741625delT	uc001geo.3	+	2	574	c.372delT	c.(370-372)aatfs	p.N124fs	MPZL1_uc001gen.4_Frame_Shift_Del_p.N124fs|MPZL1_uc001gep.3_Frame_Shift_Del_p.N124fs|MPZL1_uc001geq.3_Intron|MPZL1_uc009wvh.3_Intron	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	124	Ig-like V-type.				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ACATAGAAAATATGCAGTTTA	0.428													---	78	---	---	15	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr1:226034840_226034842delCTG	uc001hpm.2	-	23	2945_2947	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(2)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													---	257	---	---	8	---					
ETAA1	54465	broad.mit.edu	37	2	67631180	67631180	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr2:67631180delT	uc002sdz.1	+	4	1505	c.1366delT	c.(1366-1368)ttafs	p.L456fs		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	456						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGACAGAGAATTAATAGATGC	0.289													---	20	---	---	11	---					
KEL	3792	broad.mit.edu	37	7	142655437	142655438	+	In_Frame_Ins	INS	-	CAAGTGTAT	CAAGTGTAT			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr7:142655437_142655438insCAAGTGTAT	uc003wcb.3	-	4	688_689	c.478_479insATACACTTG	c.(478-480)gcc>gATACACTTGcc	p.159_160insDTL		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	159					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGCTTCAATGGCAAGTGTATCC	0.480													---	113	---	---	16	---					
TMEM66	51669	broad.mit.edu	37	8	29923641	29923641	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr8:29923641delA	uc003xhs.3	-	4	1041	c.857delT	c.(856-858)ttcfs	p.F286fs	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Frame_Shift_Del_p.F114fs	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	286						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CGAGTCTGAGAAGGGTGTTGC	0.463													---	50	---	---	28	---					
KIF20B	9585	broad.mit.edu	37	10	91497608	91497609	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr10:91497608_91497609delAT	uc001kgs.1	+	19	3082_3083	c.3010_3011delAT	c.(3010-3012)atafs	p.I1004fs	KIF20B_uc001kgr.1_Frame_Shift_Del_p.I964fs|KIF20B_uc001kgt.1_Frame_Shift_Del_p.I215fs|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1004					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity	p.R1003*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATTTCAAACATAGATTTGCTC	0.332													---	30	---	---	23	---					
SSH1	54434	broad.mit.edu	37	12	109210894	109210894	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:109210894delG	uc001tnm.3	-	4	408	c.321delC	c.(319-321)tacfs	p.Y107fs	SSH1_uc010sxg.2_Frame_Shift_Del_p.Y118fs|SSH1_uc001tnn.4_Frame_Shift_Del_p.Y107fs|SSH1_uc001tno.1_Frame_Shift_Del_p.Y34fs	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	107					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCACCACCATGTACCGGACCC	0.607													---	71	---	---	29	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:113704096_113704098delCTG	uc001tux.3	+	4	739_741	c.565_567delCTG	c.(565-567)ctgdel	p.L194del	TPCN1_uc001tuw.3_In_Frame_Del_p.L122del|TPCN1_uc010syt.1_In_Frame_Del_p.L54del	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.R193Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													---	428	---	---	7	---					
CIT	11113	broad.mit.edu	37	12	120156088	120156088	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr12:120156088delG	uc001txj.2	-	31	4186	c.4130delC	c.(4129-4131)ccgfs	p.P1377fs	CIT_uc001txh.2_Frame_Shift_Del_p.P854fs|CIT_uc001txi.2_Frame_Shift_Del_p.P1335fs	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1335					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTGGATGGCGGGGCCAGCAG	0.577													---	24	---	---	14	---					
GPR132	29933	broad.mit.edu	37	14	105518091	105518094	+	Frame_Shift_Del	DEL	ACGT	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr14:105518091_105518094delACGT	uc001yqd.3	-	3	1279_1282	c.380_383delACGT	c.(379-384)tacgtcfs	p.Y127fs	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Frame_Shift_Del_p.Y118fs	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	127					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAGGATGCTGACGTAGATGTTGCA	0.637													---	102	---	---	63	---					
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr15:28518115delC	uc001zbj.3	-	7	942	c.836delG	c.(835-837)ggafs	p.G279fs	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	279					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G279V(2)|p.G279fs*25(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592													---	59	---	---	8	---					
ZZEF1	23140	broad.mit.edu	37	17	3979949	3979949	+	Frame_Shift_Del	DEL	G	-	-	rs7207986	byFrequency	TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:3979949delG	uc002fxe.3	-	20	3280	c.3216delC	c.(3214-3216)cccfs	p.P1072fs	ZZEF1_uc002fxk.1_Frame_Shift_Del_p.P1073fs	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1072							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTCCTCCTTCGGGGCCACTAC	0.547													---	9	---	---	5	---					
EFTUD2	9343	broad.mit.edu	37	17	42929896	42929896	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr17:42929896delA	uc002ihn.2	-	25	2857	c.2596delT	c.(2596-2598)tccfs	p.S866fs	EFTUD2_uc010wje.1_Frame_Shift_Del_p.S831fs|EFTUD2_uc010wjf.1_Frame_Shift_Del_p.S856fs	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	866						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TACAGAGGGGAGCCTGGGATG	0.522													---	44	---	---	26	---					
C19orf29	58509	broad.mit.edu	37	19	3624103	3624104	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr19:3624103_3624104insG	uc002lyh.3	-	1	277_278	c.224_225insC	c.(223-225)ccgfs	p.P75fs	C19orf29_uc002lyi.4_Frame_Shift_Ins_p.P75fs|C19orf29_uc010dto.3_Non-coding_Transcript	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	75						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTTGGGCCGCGGGGGGCTCCG	0.673													---	113	---	---	58	---					
C21orf59	56683	broad.mit.edu	37	21	33949090	33949091	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2MT-06A-11D-A197-08	TCGA-EE-A2MT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25d86f6-cc9e-41c0-90b0-cee878219edb	edf0de46-0804-4c09-b470-64311e405bf6	g.chr21:33949090_33949091insC	uc002ypw.4	-	4	757_758	c.641_642insG	c.(640-642)ggtfs	p.G214fs		NM_144659	NP_653260	P57076	CU059_HUMAN	Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA.	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						ATCTTCAGACACCCCCCCGTCT	0.480													---	56	---	---	44	---					
